Details of Disease | DrugMAP

General Information of Disease (ID: DISN4BL3)

Disease Name	Lethal congenital contracture syndrome 2
Synonyms	multiple contracture syndrome, Israeli Bedouin type; multiple contracture syndrome, Israeli Bedouin type a; lethal congenital contracture syndrome caused by mutation in ERBB3; lethal congenital contracture syndrome 2; lethal congenital contractural syndrome 2; multiple contracture syndrome, Israeli-Bedouin type; LCCS2; ERBB3 lethal congenital contracture syndrome; lethal congenital contracture syndrome type 2
Definition	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
Disease Hierarchy	DIS489GT: Lethal congenital contracture syndrome DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISN4BL3: Lethal congenital contracture syndrome 2
Disease Identifiers	MONDO ID MONDO_0011868 MESH ID C564369 UMLS CUI C1843478 OMIM ID 607598 MedGen ID 334413 Orphanet ID 137776 SNOMED CT ID 715419004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ERBB3	TTSINU2	moderate	Biomarker	[1]
ERBB3	TTSINU2	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERBB3	OTRSST0A	Strong	Autosomal recessive	[2]
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References

1	Insulin-like Growth Factor Binding Protein-3 expression in the human corneal epithelium.Exp Eye Res. 2007 Oct;85(4):492-501. doi: 10.1016/j.exer.2007.06.015. Epub 2007 Jun 29.
2	A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred. Am J Med Genet A. 2003 Feb 15;117A(1):37-40. doi: 10.1002/ajmg.a.10894.