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Start free with EleplanKBG syndrome
ORPHA:2332Malformation syndrome
Also called ANKRD11-related disorder · Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
What it is
A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- 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.
Signs and symptoms
Common30–79%
35- Abnormal hair patternDiagnostic criterion
- Abnormality of skeletal morphology
- Anteverted nares
- Bilateral conductive hearing impairment
- Cervical ribsDiagnostic criterion
- Cleft palateDiagnostic criterion
- CryptorchidismDiagnostic criterion
- Cutaneous syndactyly
- Delayed skeletal maturationDiagnostic criterion
- Feeding difficultiesDiagnostic criterion
- Finger clinodactyly
- Global developmental delayDiagnostic criterion
- Hypertelorism
- Long palpebral fissure
- Long philtrum
- MacrodontiaDiagnostic criterion
- Macrotia
- Microcephaly
- Oligodontia
- Prominent nasal bridge
- ScoliosisDiagnostic criterion
- Short neck
- Short statureDiagnostic criterion
- Single transverse palmar crease
- Strabismus
- Synophrys
- Telecanthus
- Thick eyebrow
- Thin upper lip vermilion
- Thoracic kyphosis
- Triangular face
- Underdeveloped nasal alae
- Vertebral fusion
- Webbed neck
- Widely-spaced maxillary central incisorsDiagnostic criterion
Sometimes5–29%
5- Congenital malformation of the left heart
- EEG abnormalityDiagnostic criterion
- Persistent open anterior fontanelleDiagnostic criterion
- Round face
- Seizure
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
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
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.
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