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Acrocapitofemoral dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Gorlin syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Acrocapitofemoral dysplasia

Gorlin syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IHH	(0.52)	PTCH1

Citations in the biomedical literature:

Acrocapitofemoral dysplasia		Gorlin syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Basal cell nevus syndrome - NBCCS - Nevoid basal cell carcinoma syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Abnormal vertebral size / shape - Scoliosis - Short hand / brachydactyly

Acrocapitofemoral dysplasia		Gorlin syndrome
	Very frequent - Autosomal recessive inheritance - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Absent / small fingernails / anonychia of hands - Genu varum - Lordosis - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Pectus carinatum - Pectus excavatum - Short rib cage / thorax		Very frequent - Autosomal dominant inheritance - Dermoid sinus / dimple / pit (excluding sacral) - Intracranial / cerebral calcifications - Neoplasms / tumors - Pigmented naevi / naevus pigmentosus / lentigo Frequent - Anomalies of the neck - Broad nasal root Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Brachycephaly / flat occiput - Cataract / lens opacification - Coloboma of iris - Epicanthic folds - Frontal bossing / prominent forehead - Glaucoma - Hydrocephaly - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long hand / arachnodactyly - Multiple caries - Prognathism / prognathia - Strabismus / squint - Telecanthus / canthal dystopy - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae