Teebi-Shaltout syndrome

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Teebi-Shaltout syndrome

ORPHA:3291Malformation syndrome

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

ICD-10 codes

Q82.4filed under a broader ICD-10 category — shared with 43 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 5125MESH C536950MONDO 0010101OMIM 272950UMLS C1848912

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.