Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with Eleplan2q37 microdeletion syndrome
ORPHA:1001Malformation syndrome
Also called Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome · Brachydactyly-intellectual disability syndrome · Del(2)(q37) · Deletion 2q37 · Monosomy 2q37qter
What it is
A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- 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
Very common80–99%
5Common30–79%
32- Abnormal cardiovascular system morphology
- Anteverted nares
- Atypical behavior
- Bilateral single transverse palmar creases
- Brachydactyly
- Broad columella
- Clinodactyly of the 5th finger
- Deeply set eye
- Depressed nasal bridge
- Downturned corners of mouth
- Eczematoid dermatitis
- Finger syndactyly
- Frontal bossing
- Highly arched eyebrow
- Joint hypermobility
- Microcephaly
- Obesity
- Seizure
- Short foot
- Short metacarpal
- Short palm
- Short stature
- Small hand
- Sparse eyebrow
- Sparse scalp hair
- Supernumerary nipple
- Thin vermilion border
- Toe syndactyly
- Umbilical hernia
- Underdeveloped nasal alae
- Upslanted palpebral fissure
- Wide intermamillary distance
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.
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.