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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 OMIM references -
3 associated genes
22 signs/symptoms
Isolated plagiocephaly
Waardenburg-Shah syndrome

FGFR3 EDN3
TCF12 EDNRB
SOX10


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Waardenburg-Shah syndrome
EDN3 EDNRB SOX10



Isolated plagiocephaly
Waardenburg-Shah syndrome

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

Synonym(s):
- Shah-Waardenburg syndrome
- WS4
- Waardenburg syndrome type 4
- Waardenburg-Hirschsprung syndrome

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 otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness


Isolated plagiocephaly
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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Constipation
- Decreased hair pigmentation / hypopigmentation of hair
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Eyebrows anomalies
- Intestinal obstruction / ileus
- Intestinal / colonic anomaly
- Macular pigmentary anomaly / cherry-red spot
- Premature greying of hair
- White forelock / piebaldism

Frequent
- Acute abdominal pain / colic
- Anomalies of nose and olfaction
- Broad nose / nasal bridge
- High nasal bridge
- Synophris / synophrys
- Thin / hypoplastic ala nasi

Occasional
- Autosomal recessive inheritance
- Retinitis pigmentosa / retinal pigmentary changes
- Telecanthus / canthal dystopy