hypospadias-intellectual disability, Goldblatt type syndrome
Findings
No curated finding names hypospadias-intellectual disability, Goldblatt type syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Definition from the Mondo Disease Ontology (MONDO:0009435), read 2026-09-29. CC BY 4.0.
Features
15 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.
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormal palate morphology
Show the remaining 3
- SynophrysHPOHP:0000664
- Frequent (30% to 79% of cases)
- TrigonocephalyHPOHP:0000243
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: hypospadias-intellectual disability, Goldblatt type syndrome
- Also called
- Goldblatt-Wallis syndrome