Teebi-Shaltout syndrome
Findings
No curated finding names Teebi-Shaltout syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
Definition from the Mondo Disease Ontology (MONDO:0010101), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- CamptodactylyHPOHP:0012385
- Caudal appendageHPOHP:0002825
- High, narrow palateHPOHP:0002705
- HypertelorismHPOHP:0000316
- Hypoplastic helicesHPOHP:0008589
- OligodontiaHPOHP:0000677
- Prominent palatine ridgesHPOHP:0010291
- PtosisHPO