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Lethal congenital contracture syndrome 2

MONDO:0011868

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.

Also known as: ERBB3 lethal congenital contracture syndrome, LCCS2, lethal congenital contractural syndrome 2, lethal congenital contracture syndrome 2, lethal congenital contracture syndrome caused by mutation in ERBB3, lethal congenital contracture syndrome type 2, multiple contracture syndrome, Israeli-Bedouin type, multiple contracture syndrome, Israeli Bedouin type

8 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Developmental defect during embryogenesis (7) Congenital limb malformation (3) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Arthrogryposis syndrome (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 5 Completed 3
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