2q37 monosomy
MeSH: C538317ORPHA: 1001
Overview
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with 2q37 monosomy, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityRound faceIntellectual disabilityHypotoniaGlobal developmental delayMidface retrusionThin vermilion borderMicrocephalyUnderdeveloped nasal alaeAnteverted naresDeeply set eyeUpslanted palpebral fissureAtypical behaviorEczematoid dermatitisBrachydactylySeizureObesityUmbilical herniaToe syndactylyShort footFrontal bossingSparse scalp hairHighly arched eyebrowSupernumerary nippleDownturned corners of mouthClinodactyly of the 5th fingerShort palmShort statureDepressed nasal bridgeFinger syndactylyWide intermamillary distanceBilateral single transverse palmar creasesShort metacarpalBroad columellaAbnormal cardiovascular system morphologySparse eyebrowSmall handMulticystic kidney dysplasiaMacrocephalyConductive hearing impairmentShort neckAutismCompulsive behaviorsMotor stereotypyCongenital diaphragmatic herniaLaryngomalaciaAbnormal aortic morphologyPyloric stenosisSleep disturbanceNephroblastomaTracheomalaciaAttention deficit hyperactivity disorder
Classification & Codes
MeSH Code
C538317Orphanet Code
ORPHA:10012q37 monosomy
| MeSH | C538317 |
| Orphanet | ORPHA:1001 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO