Goldberg-Shprintzen syndrome
Findings
No curated finding names Goldberg-Shprintzen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Definition from the Mondo Disease Ontology (MONDO:0012280), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Aganglionic megacolonHPOHP:0002251
- 14 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 5 reported patients
- Occasional (5% to 29% of cases)
- Limb hypertoniaHPOHP:0002509
- 2 of 5 reported patients
- Bifid scrotumHPOHP:0000048
- Occasional (5% to 29% of cases)
- Finger syndactylyHPOHP:0006101
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIFBPHGNC:23419
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2010
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Goldberg-Shprintzen syndrome
- Also called
- Goldberg-Shprintzen megacolon syndromeGOSHSmegacolon-microcephaly syndrome