holoprosencephaly-hypokinesia-congenital contractures syndrome
Findings
No curated finding names holoprosencephaly-hypokinesia-congenital contractures syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.
Definition from the Mondo Disease Ontology (MONDO:0010610), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- Very frequent (80% to 99% of cases)
- HoloprosencephalyHPOHP:0001360
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Multiple joint contracturesHPOHP:0002828
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Abnormal diencephalon morphologyHPOHP:0010662
- Occasional (5% to 29% of cases)
- Abnormal pleura morphologyHPOHP:0002103
- Occasional (5% to 29% of cases)
- Adducted thumbHPOHP:0001181
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
- BlepharophimosisHPOHP:0000581
- 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.
- GPKOWHGNC:30677
- Moderate · ClinGen · X-linked · 2025
- Limited · Illumina · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: holoprosencephaly-hypokinesia-congenital contractures syndrome
- Also called
- holoprosencephaly-fetal akinesia/hypokinesia sequence syndromeMorse-Rawnsley-Sargent syndrome