Disease #04278 (SCDO (dysostosis, spondylocostal (SCDO)))

Official abbreviation SCDO
Name dysostosis, spondylocostal (SCDO)
OMIM ID -
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene LFNG
Associated tissues -
Disease features -
Remarks -
Date created 2015-05-29 16:25:47 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00428040 patient PubMed: Sparrow 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - SCDO long, slender fingers, camptodactyly left index finger; multiple vertebral ossification centers thoracic spine showing fitted angular shapes; severe foreshortening spine; non-progressive scoliosis cervical/thoracic spine; vertebral anomalies cervical/lumbar spine LFNG LFNG 1 1 Johan den Dunnen
00428041 patient PubMed: Otomo 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - SCDO spinal deformity; height SD−2.5; multiple vertebral anomalies, cervical to sacral vertebrae, defect/fusion of ribs; no scoliosis, no dysplasia of tubular bones; no respiratory problem, no hand abnormalities; inguinal herniation LFNG LFNG 2 1 Johan den Dunnen
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