Goldberg-Shprintzen syndrome
syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1
Press Enter · cited answer in seconds
0 sources
Summary
Goldberg-Shprintzen syndrome is a rare disease[1]. It ranks in the top 8% of rare disease entities by monthly Wikipedia readership (72 views/month).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: syndrome[4], genetic syndromic intellectual disability[5], ptosis[6], multiple congenital anomalies/dysmorphic syndrome-intellectual disability[7], rare disease involving intestinal motility[8], syndromic anorectal malformation[9], orofacial clefting syndrome[10], genetic disease[11], autosomal recessive disease[12], developmental defect during embryogenesis[13], head and neck disease[14]
- Prevalence: 0.000001[15]
- NCI Thesaurus ID: C124840[16]
- Genetic association: KIFBP[17]
- Age of onset: infantile onset[18], neonatal onset[19]
- Exact match: http://purl.obolibrary.org/obo/DOID_0060481[20], http://identifiers.org/doid/DOID:0060481[21], http://www.orpha.net/ORDO/Orphanet_66629[22]
- On focus list of Wikimedia project: WikiProject Medicine[23]
- Has phenotype: cleft palate[24], microcephaly[25], short stature[26], coloboma of iris[27], hypospadias[28], hypertelorism[29], Macrotia[30], seizure[31], Pachygyria[32], Ventriculomegaly[33], Q141815551[34]
- P14914: D66629[35]
Why It Matters
Goldberg-Shprintzen syndrome has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[36] It is known by 13 alternative names across languages and contexts.[37]