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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.
Features include sometimes findings: Aortic valve stenosis, Narrow mouth, Turricephaly, and Ventricular septal defect and others. 43 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Microcephaly, Cleft palate, High, narrow palate |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Teebi-Shaltout syndrome
2 |
Aortic valve stenosis, Ventricular septal defect |
Arms and legs | 2 | Ulnar deviation of the hand, Rocker bottom foot |
Growth and development | 1 | Short stature |
Kidneys and urinary system | 1 | Horseshoe kidney |
Eyes | 1 | Ptosis |