Atkin-Flaitz syndrome
Findings
No curated finding names Atkin-Flaitz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.
Definition from the Mondo Disease Ontology (MONDO:0010323), read 2026-09-29. CC BY 4.0.
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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MacroorchidismHPOHP:0000053
- Very frequent (80% to 99% of cases)
- Maxillary lateral incisor microdontiaHPOHP:0001593
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- Very frequent (80% to 99% of cases)
Show the remaining 4
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Atkin-Flaitz syndrome
- Also called
- X-linked intellectual disability, Atkin type