has material basis in germline mutation in ERBB3 lethal congenital contracture syndrome 2 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 https://www.malacards.org/card/lethal_congenital_contracture_syndrome_2 lethal congenital contracture syndrome 2 UMLS:C1843478 ERBB3 lethal congenital contracture syndrome multiple contracture syndrome, Israeli Bedouin type DOID:0060560 OMIM:607598 multiple contracture syndrome, Israeli-Bedouin type Orphanet:137776 multiple contracture syndrome, Israeli Bedouin type a LCCS2 lethal congenital contractural syndrome 2 SCTID:715419004 GARD:0009177 lethal congenital contracture syndrome caused by mutation in ERBB3 MEDGEN:334413 MESH:C564369 lethal congenital contracture syndrome type 2 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. MONDO:0011868 multiple congenital anomalies/dysmorphic syndrome without intellectual disability lethal congenital contracture syndrome