Disease #01055 (SGBS2 (Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2)), OMIM:300209)

Official abbreviation SGBS2
Name Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2)
OMIM ID 300209
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene OFD1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00207519 P2 PubMed: Fauth et al., 2016 - M no Austria;Dominican Republic - 00y03m - - - SGBS2 Severe muscular hypotonia, contractures of the knees, elbows, and fingers, and lack of spontaneous movements. Dysmorphic with a high anterior hairline, bitemporal narrowing, a prominent metopic ridge with a midline naevus simplex, widely spaced eyes, a depressed nasal bridge, a short nose with anteverted nares, a prominent, fleshy philtrum, a wide mouth with thick vermilion of the lips, gingival overgrowth, a narrow V‐shaped palate without clefting, micrognathia with a vertical median chin crease, overfolded ear helices, a short webbed neck, widely spaced nipples, short distal phalanges of hands and feet with small nails, and a single transverse palmar crease of the right hand. Bilateral inguinal hernias, a small penis, and an atrial septal defect, type II with a left‐right shunt. Elevated ALP level. PIGA PIGA 1 1 Philippe Campeau
00207520 P3 PubMed: Fauth et al., 2016 older brother of patient 2. Stillborn at 32+2w. M no Austria;Dominican Republic - - - - - SGBS2 Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable. PIGA PIGA 1 1 Philippe Campeau
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