Keipert syndrome
Findings
No curated finding names Keipert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Definition from the Mondo Disease Ontology (MONDO:0009720), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
40 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.
- HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- 9 of 9 reported patients
- Aplasia/Hypoplasia of the distal phalanges of the toesHPOHP:0010185
- Very frequent (80% to 99% of cases)
- Broad distal phalanx of fingerHPOHP:0009836
- 7 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Broad hallux phalanxHPOHP:0010059
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Short halluxHPOHP:0010109
- Very frequent (80% to 99% of cases)
- Broad halluxHPOHP:0010055
- 7 of 9 reported patients
- Downturned corners of mouthHPOHP:0002714
- 7 of 9 reported patients
- Midface retrusionHPOHP:0011800
- 7 of 9 reported patients
- Prominent foreheadHPOHP:0011220
- 7 of 9 reported patients
- MacrocephalyHPOHP:0000256
- 7 of 10 reported patients
- Frequent (30% to 79% 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.
- GPC4HGNC:4452
- Definitive · G2P · X-linked · 2023
- Strong · Ambry Genetics · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked recessive · 2019
Where it sits
Other names
4 names
Resolves to: Keipert syndrome
- Also called
- Keipert syndrome, X-linked recessiveKPTSnasodigitoacoustic syndromenasodigitoacoustic syndrome, formerly