ODCs

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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Aarskog-Scott syndrome

2 OMIM references -
1 associated gene
49 signs/symptoms

Split hand-split foot malformation

Aarskog-Scott syndrome

BTRC	(UniProt - OMIM)	FGD1	(UniProt - OMIM)
FBXW4	(UniProt - OMIM)
SHFM1	(UniProt - OMIM)
TP63	(UniProt - OMIM)
WNT10B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BTRC	(0.63)	FGD1

Citations in the biomedical literature:

Split hand-split foot malformation		Aarskog-Scott syndrome
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - Aarskog syndrome - Faciodigitogenital syndrome - Faciogenital dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare urogenital disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: 6 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Syndactyly of fingers / interdigital palm - X-linked recessive inheritance

Split hand-split foot malformation		Aarskog-Scott syndrome
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray		Very frequent - Anomalies of hands - Broad foot - Camptodactyly of some fingers - Everted lower lip - Hypertelorism - Shawl scrotum - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Small hand / acromicria - Umbilical hernia Frequent - Anteverted nares / nostrils - Broad forehead - Broad nasal root - Clinodactyly of fifth finger - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - External ear anomalies - High hair line (front) / widow peak - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Low set ears / posteriorly rotated ears - Ptosis - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anomalies of spine, vertebrae and pelvis - Anomalies of teeth and dentition - Cleft lip - Cleft lip and palate - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Delayed dentition / eruption of teeth / lack of eruption of teeth - Epicanthic folds - Flat foot - Genu recurvatum - Heart / cardiac failure - Hyperactivity / attention deficit - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Megalocornea - Pectus excavatum - Psychic / behavioural troubles - Round face - Short neck - Simian crease / transverse / unique palmar crease - Strabismus / squint - Talipes-varus / metatarsal varus