short stature-optic atrophy-Pelger-Huët anomaly syndrome
MONDO:0013889Mondo
Findings
No curated finding names short stature-optic atrophy-Pelger-Huët anomaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
34 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.
- BrachydactylyHPOHP:0001156
- 34 of 34 reported patients
- Cutis laxaHPOHP:0000973
- 34 of 34 reported patients
- Hyposegmentation of neutrophil nucleiHPOHP:0011447
- 22 of 22 reported patients
- MicromeliaHPOHP:0002983
- 34 of 34 reported patients
- Optic atrophyHPOHP:0000648
- 34 of 34 reported patients
- Postnatal growth retardationHPOHP:0008897
- 34 of 34 reported patients
- Short statureHPOHP:0004322
- 34 of 34 reported patients
- Hypoplasia of the zygomatic boneHPOHP:0010669
- 33 of 34 reported patients
- Long faceHPOHP:0000276
- 33 of 34 reported patients
- Abnormally high-pitched voiceHPOHP:0001620
- 32 of 34 reported patients
- Narrow foreheadHPOHP:0000341
- 31 of 34 reported patients
- Prominent glabellaHPOHP:0002057
- 31 of 34 reported patients
Show the remaining 22
- ProptosisHPOHP:0000520
- 31 of 34 reported patients
- BrachycephalyHPOHP:0000248
- 30 of 34 reported patients
- Short neckHPOHP:0000470
- 30 of 34 reported patients
- HypotoniaHPOHP:0001252
- 28 of 34 reported patients
- Long philtrumHPOHP:0000343
- 28 of 34 reported patients
- Thin vermilion borderHPOHP:0000233
- 28 of 34 reported patients
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.
- NBASHGNC:15625
- Definitive · Illumina · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: short stature-optic atrophy-Pelger-Huët anomaly syndrome
- Also called
- short stature with optic atrophy and Pelger-Huët anomaly syndromeshort stature, optic nerve atrophy, and Pelger-Huet anomalysoph syndrome