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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Split hand-split foot malformation

Laron syndrome

BTRC	(UniProt - OMIM)		GHR	(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	(0.88)	GHR

Citations in the biomedical literature:

Split hand-split foot malformation		Laron syndrome
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): - Complete growth hormone insensitivity - GH receptor deficiency - Growth hormone receptor deficiency - Laron-type dwarfism - Primary GH insensitivity - Primary GH resistance - Primary growth hormone insensitivity - Primary growth hormone resistance - Short stature due to growth hormone resistance

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

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

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D046150


COMMON SIGNS	- Autosomal recessive inheritance

Split hand-split foot malformation		Laron syndrome
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of the endocrine glands - Complete / partial microdontia - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Facial dysmorphism - High forehead - Micrognathia / retrognathia / micrognathism / retrognathism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short stature / dwarfism / nanism - Truncal obesity Frequent - Elbow anomalies(excluding luxation) - Flat supraorbital ridge - Hypoglycemia - Late puberty / hypogonadism / hypogenitalism - Micropenis / small penis / agenesis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short foot / brachydactyly of toes - Short hand / brachydactyly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Blue sclerae - Flattened nose - Hairy patch - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Osteoarthritis - Premature ageing - Skull / cranial anomalies