ring chromosome 7
MeSH: C537813ORPHA: 1449
Overview
human disease
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 ring chromosome 7, sourced from HPO and Orphanet clinical annotations.
HypospadiasHypogonadismNarrow mouthThin vermilion borderBrachycephalyMicrocephalyAbnormality of the faceMalar flatteningEpicanthusLow anterior hairlineShort philtrumSmall earlobeProminent nasal bridgeWide nasal bridgeDownslanted palpebral fissuresHypotelorismAbnormal posterior cranial fossa morphologyMotor delayBilateral ptosisCerebral cortical atrophyHighly arched eyebrowShort statureFlat foreheadUnilateral ptosisSevere intrauterine growth retardationSpeech articulation difficultiesProminent crus of helixSevere global developmental delayFlat faceAbnormality of skin pigmentationSlender fingerVentriculomegalyShort noseNarrow narisHeart murmurHydrocele testisCleft palateMandibular prognathiaFacial hemangiomaAnteverted naresStrabismusEsotropiaSingle transverse palmar creaseCafe-au-lait spotAbnormal cerebellum morphologyGenu valgumMelanomaLumbar kyphoscoliosisHyperpigmented neviSmall handBifid uvulaPlagiocephalyHoloprosencephalySitus inversus totalisClinodactyly of the 5th fingerMedian cleft palateShort 5th finger3-4 toe syndactyly
Classification & Codes
MeSH Code
C537813Orphanet Code
ORPHA:1449ring chromosome 7
| MeSH | C537813 |
| Orphanet | ORPHA:1449 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO