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Goldberg-Shprintzen megacolon syndrome
1 OMIM reference -
1 associated gene
11 connected diseases
23 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Retinitis pigmentosa
Adult-onset distal myopathy due to VCP mutation
Autosomal recessive nonsyndromic intellectual deficit
Behavioral variant of frontotemporal dementia
Dubowitz syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 2
Synonym(s):
- GOSHS
- Megacolon - microcephaly
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537279
Gene symbol UniProt reference OMIM reference
KIAA1279 Q96EK5609367
Very frequent
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Frequent
- Coloboma of iris
- Hypotonia
- Ptosis

Occasional
- Absent / decreased / thin eyebrows
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Broad nasal root
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Hypertelorism
- Hypospadias / epispadias / bent penis
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long / large ear
- Pointed chin
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sloping forehead
- Syndactyly of fingers / interdigital palm