Meet
and Family
Location: ,
FAMILY MESSAGE:

Signs and Symptoms
- Anomalies of eyes and vision Nystagmus
- Skull/cranial anomalies Microcephaly
- Face/facial anomalies Flat cheek bones/malar hypoplasia
- Anomalies of ear and hearing Folded helix
- Skull/cranial anomalies Microcephaly
- Anomalies of eyes and vision Microcornea
- Anomalies of eyes and vision Myopia
- Anomalies of eyes and vision Nystagmus
- Anomalies of eyes and vision Retinoschisis/retinal/chorioretinal coloboma
- Anomalies of eyes and vision Anterior chamber anomaly
- Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
- Anomalies of eyes and vision Coloboma of iris
- Skull/cranial anomalies Microcephaly
- Skull/cranial anomalies Trigonocephaly
- Anomalies of ear and hearing Low set ears/posteriorly rotated ears
- Anomalies of ear and hearing Sensorineural deafness/hearing loss
- Anomalies of ear and hearing Conductive deafness/hearing loss
- Anomalies of ear and hearing Chronic/relapsing otitis
- Hair and scalp anomalies Low hair line (back)
- Structural anomalies of the digestive tract Microgastria
- Structural anomalies of the digestive tract Intestinal/gut/bowel malrotation
- Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
- Anomalies of the neck Short neck
- Structural anomalies of the nervous system Dandy-Walker anomaly
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system EEG anomalies
- Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
- Anomalies of the endocrine glands Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
- Anomalies of the endocrine glands Hypothyroidy
- Anomalies of cartilages, joints and periarticular tissue Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
- Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Palate anomalies Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
- Build/stature/longevity anomalies Asymmetry of the body/hemiatrophy/hemihyperthrophy
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Structural anomalies of the respiratory system and diaphragm Larynx/laryngeal stenosis/atresia
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Skull/cranial anomalies Microcephaly
- Skull/cranial anomalies Frontal bossing/prominent forehead
- Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
- Structural anomalies of the nervous system Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
- Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Autism/autistic disoders
- Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
- Health status anomalies Fever/chilling
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Myoclonus/fasciculations
- Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
- Anomalies of cartilages, joints and periarticular tissue Arthritis/synovitis/synovial proliferation
- Health status anomalies Pallor
- Anomalies of cartilages, joints and periarticular tissue Musculo-tendinous retractions
- Anomalies of the immunitary system Hypergammaglobulinemia
- Functional anomalies of the nervous system Retrobulbar optic neuritis
- Functional anomalies of the nervous system EEG anomalies
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Anomalies of eyes and vision Strabismus/squint
- Muscle anomalies Muscle weakness/flaccidity
- Face/facial anomalies Hypertelorism
- Skull/cranial anomalies Frontal bossing/prominent forehead
- Face/facial anomalies Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
- Anomalies of eyes and vision Strabismus/squint
- Eyebrows anomalies Lateral thinning of eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
- Anomalies of eyelids, eyelashes and lacrimal system Long/thick/curved lashes/trichomegaly/polytrichia
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
- Macrostomia/big mouth Philtrum deeply grooved
- Macrostomia/big mouth Exaggerated cupid bows
- Palate anomalies High vaulted/narrow palate
- Anomalies of ear and hearing Low set ears/posteriorly rotated ears
- Anomalies of ear and hearing Helix thickened/sculpted
- Anomalies of ear and hearing Thick/wide ear lobe
- Anomalies of spine, vertebrae and pelvis Lordosis
- Anomalies of skin, subcutaneous tissue and mucosae Eczema
- Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
- Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
- Hair and scalp anomalies slow growth of the hair
- Hair and scalp anomalies Fine hair
- Hair and scalp anomalies Low hair line (back)
- Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Structural anomalies of the kidney and the urinary tract Vesicorenal/vesicoureteral reflux
- Structural anomalies of the nervous system Syringomelia
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Muscle anomalies Muscle weakness/flaccidity
- Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
- Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
- Functional anomalies of the nervous system Sphincter dysfunction
- Anomalies of eyes and vision Glaucoma
- Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
- Functional anomalies of the respiratory system and diaphragm Respiratory distress/dyspnea/respiratory failure/lung volume reduction
- Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
- Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
- Metabolic anomalies Respiratory chain /mitochondrial anomalies
- Skull/cranial anomalies Plagiocephaly
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Tics/stereotypias
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
- Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
- Functional anomalies of the nervous system Incessant startle response to noise
- Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
- Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
- Health status anomalies Asthenia/fatigue/weakness
- Structural anomalies of the nervous system Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
- Functional anomalies of the nervous system Abnormal gait
- Muscle anomalies Myalgia/muscular pain
- Muscle anomalies Muscle weakness/flaccidity
- Functional anomalies of the digestive system Constipation
- Anomalies of eyes and vision Visual loss/blindness/amblyopia
- Anomalies of eyes and vision Mild visual loss/impaired visual acuity
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Face/facial anomalies Dental malocclusion
- Palate anomalies High vaulted/narrow palate
- Functional anomalies of the nervous system Incessant startle response to noise
- Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
- Functional anomalies of the nervous system Tics/stereotypias
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Autism/autistic disoders
- Functional anomalies of the nervous system Auto-aggressivity/auto-mutilation
- Build/stature/longevity anomalies Generalized obesity
- Chromosomal or genetic anomaly Autosomal dominant inheritance
- Metabolic anomalies Vitamin B12 deficiency
- Metabolic anomalies Vitamin D deficiency
- Functional anomalies of the nervous system Hypereflexia
- Structural anomalies of the genital system Abnormal/polycystic ovaries
- Antenatal period/pregnancy anomalies Maternal seizures
- Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
- Functional anomalies of the nervous system Hyperactivity/attention deficit
- Functional anomalies of the nervous system Alexia/agraphia/writing/reading troubles
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system Cranial hypertension
- Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
- Functional anomalies of the cardio-circulatory system Heart/cardiac failure
- Functional anomalies of the cardio-circulatory system Hypotension
- Functional anomalies of the respiratory system and diaphragm Bronchiolitis
- Anomalies of ear and hearing Central deafness/hearing loss
- Anomalies of eyes and vision Mild visual loss/impaired visual acuity
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Chromosomal or genetic anomaly Autosomal dominant inheritance
- Antenatal period/pregnancy anomalies Intrauterine growth retardation
- Anomalies of spine, vertebrae and pelvis Spina bifida occulta
- Functional anomalies of the digestive system Acute abdominal pain/colic
- Functional anomalies of the kidney and the urinary tract Urinary/renal lithiasis/kidney stones/nephritic colic
- Structural anomalies of the genital system Abnormal/polycystic ovaries
- Anomalies of bones/skeletal anomalies Bone cyst
- Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
- Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
- Structural anomalies of the nervous system Communicating hydrocephaly
- Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
- Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
- Functional anomalies of the digestive system Halitosis/bad breath
- Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the digestive system Acute diarrhea
- Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
- Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
- Functional anomalies of the nervous system Insomnia
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
- Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
- Functional anomalies of the nervous system Hyperactivity/attention deficit
- Functional anomalies of the nervous system Visual/auditory/tactile agnosia/propopagnosia/simultagnosia
- Metabolic anomalies Metabolic decompensation
- Chromosomal or genetic anomaly Genomic imprinting anomaly
- Build/stature/longevity anomalies Short stature/dwarfism/nanism
- Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
- Skull/cranial anomalies Microcephaly
- Functional anomalies of the nervous system Hyperactivity/attention deficit
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Hemiplegia/diplegia/hemiparesia/limb palsy
- Functional anomalies of the nervous system Abnormal gait
- Functional anomalies of the nervous system Autism/autistic disoders
- Chromosomal or genetic anomaly Insterstitial/subtelomeric microdeletion/deletion
- Skull/cranial anomalies Microcephaly
- Anomalies of eyes and vision Strabismus/squint
- Anomalies of skin, subcutaneous tissue and mucosae Eczema
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Muscle anomalies Muscle weakness/flaccidity
- Face/facial anomalies Triangular face
- Functional anomalies of the nervous system Facial pain/cephalalgia/migraine
- Functional anomalies of the nervous system Psychic/psychomotor regression/dementia/intellectual decline
- Functional anomalies of the nervous system Delirium/hallucination
- Structural anomalies of the nervous system Intracranial/cerebral calcifications
- Muscle anomalies Myopathy
- Muscle anomalies Muscle weakness/flaccidity
- Muscle anomalies Myalgia/muscular pain
- Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
- Skull/cranial anomalies Microcephaly
- Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
- Structural anomalies of the genital system Undescended/ectopic testes/cryptorchidia/unfixed testes
- Structural anomalies of the cardio-circulatory system Atrial septal defect/interauricular communication
- Structural anomalies of the cardio-circulatory system Pulmonary valve atresia/stenosis/narrowing
- Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
- Upper limb segmental anomalies Clinodactyly of fifth finger
- Lower limb segmental anomalies Irregular length/shape of toes
- Upper limb segmental anomalies Tapered fingers
- Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
- Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
- Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
- Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
- Anomalies of eyes and vision Cataract/lens opacification
- Anomalies of teeth and dentition Enamel anomaly
- Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
- Build/stature/longevity anomalies Short stature/dwarfism/nanism
- Functional anomalies of the nervous system Hypotonia
- Anomalies of the hematological system Thrombocytopenia/thrombopenia
- Anomalies of ear and hearing Sensorineural deafness/hearing loss
- Functional anomalies of the nervous system Elocution disorders/dysarthria/dysphonia
- Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
- Anomalies of teeth and dentition Complete/partial microdontia
- Anomalies of eyes and vision Strabismus/squint
- Palate anomalies High vaulted/narrow palate
- Anomalies of teeth and dentition Supernumerary teeth/polyodontia
- Anomalies of teeth and dentition Multiple caries
- Anomalies of spine, vertebrae and pelvis Kyphosis
- Hair and scalp anomalies High hair line (front)/widow peak
- Structural anomalies of the digestive tract Tonsil anomaly/hypertrophy/adenoiditis
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the digestive system Intestinal transit disorder
- Functional anomalies of the digestive system Mucous stools/acholic stools
- Functional anomalies of the digestive system Constipation
- Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Functional anomalies of the digestive system Acute abdominal pain/colic
- Anomalies of eyes and vision Nystagmus
- Anomalies of eyes and vision Oculomotor apraxia/dyspraxia
- Anomalies of eyes and vision Diplopia/double vision
- Anomalies of ear and hearing Dizziness
- Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
- Anomalies of skin, subcutaneous tissue and mucosae Skin photosensitivity
- Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
- Anomalies of skin, subcutaneous tissue and mucosae Eczema
- Hair and scalp anomalies Abnormal fall of hair
- Hair and scalp anomalies Fine hair
- Hair and scalp anomalies High hair line (front)/widow peak
- Hair and scalp anomalies Hypersensibility of scalp/scalp tenderness
- Hair and scalp anomalies Scalp cyst/giant nevus
- Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
- Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Functional anomalies of the digestive system Acute abdominal pain/colic
- Functional anomalies of the digestive system Encopresis/fecal incontinence
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
- Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
- Functional anomalies of the respiratory system and diaphragm Abnormal cry/voice/phonation disorder/nasal speech
- Functional anomalies of the respiratory system and diaphragm Chronic hiccup
- Functional anomalies of the kidney and the urinary tract Recurrent urinary infections
- Functional anomalies of the kidney and the urinary tract Pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
- Functional anomalies of the kidney and the urinary tract Abnormal colour of the urine/cholic/dark urines
- Functional anomalies of the kidney and the urinary tract Abnormal odour of the urine
- Structural anomalies of the nervous system Cranial nerve anomalies
- Structural anomalies of the nervous system Cerebral vascular anomalies
- Functional anomalies of the nervous system Sphincter dysfunction
- Functional anomalies of the nervous system Encephalitis
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
- Functional anomalies of the nervous system Myoclonus/fasciculations
- Skull/cranial anomalies Scalp/skull defect
- Anomalies of eyes and vision Pupillary anomalies/mydriasis/myosis/tonic pupil
- Anomalies of teeth and dentition Enamel anomaly
- Anomalies of ear and hearing Tinnitus
- Anomalies of ear and hearing Dizziness
- Clavicle absent/abnormal Pectus carinatum
- Anomalies of spine, vertebrae and pelvis Intervertebral disk herniation
- Lower limb segmental anomalies Irregular length/shape of toes
- Anomalies of skin, subcutaneous tissue and mucosae Hyperhidrosis/increased sweating
- Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
- Anomalies of skin, subcutaneous tissue and mucosae Striae
- Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
- Anomalies of skin, subcutaneous tissue and mucosae Skin photosensitivity
- Anomalies of skin, subcutaneous tissue and mucosae Thin skin
- Hair and scalp anomalies Abnormal fall of hair
- Structural anomalies of the digestive tract Tonsil anomaly/hypertrophy/adenoiditis
- Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
- Functional anomalies of the digestive system Epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Functional anomalies of the digestive system Acute abdominal pain/colic
- Functional anomalies of the digestive system Malabsorption/chronic diarrhea/steatorrhea
- Functional anomalies of the digestive system Mucous stools/acholic stools
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the respiratory system and diaphragm Thoracic/chest pain
- Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
- Functional anomalies of the kidney and the urinary tract Abnormal odour of the urine
- Functional anomalies of the kidney and the urinary tract Abnormal colour of the urine/cholic/dark urines
- Anomalies of the endocrine glands Primary amenorrhea
- Functional anomalies of the nervous system Dysautonomia/autonomous nervous sytem anomalies
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Myoclonus/fasciculations
- Functional anomalies of the nervous system Hypereflexia
- Functional anomalies of the nervous system Insensitivity to pain
- Functional anomalies of the nervous system Paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
- Functional anomalies of the nervous system Insomnia
- Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
- Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
- Muscle anomalies Muscle weakness/flaccidity
- Muscle anomalies Abnormal EMG/electromyogram/electropmyography
- Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
- Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
- Anomalies of the immunitary system Autoimmunity/autoimmune reaction/autoantibodies
- Anomalies of the hematological system Gingivorrhagia/gingival bleeding
- Anomalies of the hematological system Hematomas
- Neoplasms/tumors Neuroendocrine tumor/apudoma/carcinoid
- Build/stature/longevity anomalies Short stature/dwarfism/nanism
- Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
- Health status anomalies Thirst
- Health status anomalies Asthenia/fatigue/weakness
- Health status anomalies Hot flushes/sensation of cold
- Anomalies of eyes and vision Mild visual loss/impaired visual acuity
- Anomalies of eyes and vision Abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
- Anomalies of eyes and vision Myopia
- Anomalies of eyes and vision Oculomotor apraxia/dyspraxia
- Upper limb segmental anomalies Irregular length/shape of fingers
- Upper limb segmental anomalies Flat palm
- Lower limb segmental anomalies Flat foot
- Functional anomalies of the digestive system Functional colopathy/irritable bowel syndrome
- Functional anomalies of the nervous system Abnormal gait
- Functional anomalies of the nervous system Hyperkinesia/dyskinesia
- Health status anomalies Pallor
- Neoplasms/tumors Mastocytosis
- Anomalies of the hematological system Ferropenic anemia
- Skull/cranial anomalies Microcephaly
- Anomalies of eyes and vision Myopia
- Structural anomalies of the digestive tract Respiratory-digestive intersection/aero-digestive cross-roads anomaly
- Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
- Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
- Functional anomalies of the respiratory system and diaphragm Chronic hiccup
- Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Abnormal gait
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Hypereflexia
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system Insensitivity to pain
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Muscle anomalies Muscle weakness/flaccidity
- Functional anomalies of the nervous system Abnormal gait
- Functional anomalies of the nervous system Tremor
- Functional anomalies of the nervous system Chorea/athetosis/choreoathetosis/choreic syndrome
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
- Functional anomalies of the nervous system Hypotonia
- Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
- Face/facial anomalies Flat supraorbital ridge
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short/small nose
- Anomalies of teeth and dentition Enamel anomaly
- Nails anomalies Thin/hypoplastic toenails
- Nails anomalies Thin/hypoplastic/hyperconvex fingernails
- Muscle anomalies Muscle weakness/flaccidity
- Skull/cranial anomalies Microcephaly
- Face/facial anomalies Triangular face
- Face/facial anomalies Hypertelorism
- Face/facial anomalies Upslanted palpebral fissures/mongoloid slanting palpebral fissures
- Face/facial anomalies Micrognathia/retrognathia/micrognathism/retrognathism
- Face/facial anomalies Dental malocclusion
- Face/facial anomalies Limited opening of the mouth
- Anomalies of eyes and vision Brushfield spots
- Anomalies of eyes and vision Astigmatism
- Eyebrows anomalies Thick/bushy eyebrows
- Eyebrows anomalies Darker than expected eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system Ptosis
- Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Anteverted nares/nostrils
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Small/triangular nares/nostrils
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
- Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
- Macrostomia/big mouth Microstomia/little mouth
- Macrostomia/big mouth Philtrum flat/large/featureless/absent cupidon bows
- Macrostomia/big mouth Everted lower lip
- Macrostomia/big mouth Thin/retracted lips
- Anomalies of teeth and dentition Multiple caries
- Anomalies of teeth and dentition Tooth shape anomaly
- Anomalies of ear and hearing Low set ears/posteriorly rotated ears
- Anomalies of ear and hearing Long/large ear
- Anomalies of ear and hearing Thick/wide ear lobe
- Anomalies of the neck Short neck
- Clavicle absent/abnormal Flared chest/bell-shaped thorax/shield chest
- Clavicle absent/abnormal Abnormally placed nipples
- Clavicle absent/abnormal Narrow/sloping shoulders
- Anomalies of spine, vertebrae and pelvis Scoliosis
- Upper limb segmental anomalies Tapered fingers
- Upper limb segmental anomalies Clinodactyly of fifth finger
- Upper limb segmental anomalies Irregular length/shape of fingers
- Lower limb segmental anomalies Flat foot
- Lower limb segmental anomalies Claw toes/retracted toes
- Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
- Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
- Anomalies of skin, subcutaneous tissue and mucosae Eczema
- Anomalies of skin, subcutaneous tissue and mucosae Irregular/patchy skin hypopigmentation
- Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
- Hair and scalp anomalies slow growth of the hair
- Hair and scalp anomalies Low hair line (back)
- Hair and scalp anomalies High hair line (front)/widow peak
- Functional anomalies of the digestive system Acute abdominal pain/colic
- Functional anomalies of the digestive system Constipation
- Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
- Functional anomalies of the cardio-circulatory system Bruisability
- Functional anomalies of the nervous system Incessant startle response to noise
- Functional anomalies of the nervous system EEG anomalies
- Functional anomalies of the nervous system Abnormal gait
- Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
- Functional anomalies of the nervous system Hypotonia
- Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
- Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
- Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
- Functional anomalies of the nervous system Hyperactivity/attention deficit
- Functional anomalies of the nervous system Autism/autistic disoders
- Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
- Anomalies of the hematological system Platelets shape anomalies
- Chromosomal or genetic anomaly Total/partial trisomy/duplication