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Wolf-Hirschhorn syndrome

1 OMIM reference -
3 associated genes
79 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Temtamy syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Wolf-Hirschhorn syndrome

Temtamy syndrome

LETM1	(UniProt - OMIM)		C12ORF57	(UniProt - OMIM)
NELFA	(UniProt - OMIM)
WHSC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LETM1	(0.49)	C12ORF57

Citations in the biomedical literature:

Wolf-Hirschhorn syndrome		Temtamy syndrome
	Synonym(s): - 4p- syndrome - Distal deletion 4p - Distal monosomy 4p - Telomeric deletion 4p		Synonym(s): - Craniofacial dysmorphism - coloboma - corpus callosum agenesis - Temtamy-Shalash syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: adult Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: C536740 / D054877		External references: 1 OMIM reference - 1 MeSH reference: C536959


COMMON SIGNS	- Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - Dolichocephaly / scaphocephaly - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus

Wolf-Hirschhorn syndrome		Temtamy syndrome
	Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Broad nose / nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Downturned mouth - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - Fetal immobility / abnormal fetal movements - Frontal bossing / prominent forehead - High arched eyebrows - High forehead - High hair line (front) / widow peak - Hypospadias / epispadias / bent penis - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intrauterine growth retardation - Microcephaly - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Short philtrum Frequent - Abnormal vertebral size / shape - Anomalies of chest / thorax / trunk - Anomalies of hands - Anomalies of spine, vertebrae and pelvis - Atrial septal defect / interauricular communication - Big toe anomaly (excluding absence) - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cardiac septal defect - Cardiac valvulopathy - Cleft lip and palate - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Diaphragmatic hernia / defect / agenesis - Foot anomalies - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Kyphosis - Long hand / arachnodactyly - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Ptosis - Renal / kidney anomalies - Rib number anomalies - Sacral sinus / dimple - Scalp / skull defect - Scoliosis - Talipes-varus / metatarsal varus - Thumb duplication / distal bifid thumb phalangeal bone - Thumb hypoplasia / aplasia / absence - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anomalies of the immunitary system - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Chronic / relapsing otitis - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Gallbladder / common bile duct anomalies - Herniae - Hypoplastic / absent nipples - Long limbs / dolichostenomelia - Megalocornea - Movement disorder - Nystagmus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Proptosis / exophthalmos - Repeat respiratory infections - Retinopathy - Sclerocornea - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Strabismus / squint - Structural anomalies of the genital system - Structural anomalies of the kidney and the urinary tract		Very frequent - Autosomal recessive inheritance - Retinoschisis / retinal / chorioretinal coloboma - Short foot / brachydactyly of toes - Short hand / brachydactyly Frequent - Aortic dilatation / dilation - Beaked nose - Coarse face - Flat foot - Genu varum - Long face - Macrocephaly / macrocrania / megalocephaly / megacephaly Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Telecanthus / canthal dystopy - Thick lips