holoprosencephaly-postaxial polydactyly syndrome
MONDO:0009921Mondo
Findings
No curated finding names holoprosencephaly-postaxial polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.
Definition from the Mondo Disease Ontology (MONDO:0009921), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- Hypoplasia of the premaxillaHPOHP:0010650
- Very frequent (80% to 99% of cases)
- HypotelorismHPOHP:0000601
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal lung lobationHPOHP:0002101
- Frequent (30% to 79% of cases)
- Abnormality of the hypothalamus-pituitary axisHPOHP:0000864
- Frequent (30% to 79% of cases)
- Adrenal hypoplasiaHPOHP:0000835
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
Show the remaining 24
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- HoloprosencephalyHPOHP:0001360
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: holoprosencephaly-postaxial polydactyly syndrome
- Also called
- pseudo-trisomy 13 syndrome