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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
31 signs/symptoms
Isolated plagiocephaly
Neurologic Waardenburg-Shah syndrome

FGFR3 SOX10
TCF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF12
(0.52)
SOX10



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Neurologic Waardenburg-Shah syndrome
SOX10



Isolated plagiocephaly
Neurologic Waardenburg-Shah syndrome

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- PCWH
- Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease
- WS4 plus

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


Isolated plagiocephaly
Neurologic Waardenburg-Shah syndrome

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Acute abdominal pain / colic
- Ataxia / incoordination / trouble of the equilibrium
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Heterochromia / mixed colouring of iris
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intestinal obstruction / ileus
- Irregular / patchy skin hypopigmentation
- Nystagmus
- Peripheral neuropathy
- Pyramidal syndrome
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Broad nose / nasal bridge
- Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon
- Decreased hair pigmentation / hypopigmentation of hair
- Eyebrows anomalies
- High nasal bridge
- Late puberty / hypogonadism / hypogenitalism
- Premature greying of hair
- Thin / hypoplastic ala nasi

Occasional
- Arthrogryposis
- Cardiac rhythm disorder / arrhythmia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Splenomegaly
- Telecanthus / canthal dystopy