Beare-Stevenson cutis gyrata syndrome
MeSH: C565129ORPHA: 1555
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 Beare-Stevenson cutis gyrata syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismBifid scrotumNarrow mouthCleft palateNarrow palateHydrocephalusTurricephalyDolichocephalyAbnormality of the faceMalar flatteningHypertelorismHearing abnormalityThickened helicesMacrotiaChoanal atresiaAnteverted naresAbnormality of the eyeDownslanted palpebral fissuresAbnormality of visionPtosisProptosisOptic atrophyHypertensionAbnormal skull morphologyAcanthosis nigricansPalmoplantar keratodermaMelanocytic nevusCraniosynostosisSubcutaneous noduleUmbilical herniaAnteriorly placed anusAbnormal nail morphologyAbnormality of the pancreasRespiratory distressCloverleaf skullProminent scrotal raphePreauricular skin furrowDepressed nasal bridgePalmoplantar cutis gyrataTooth agenesisAplasia/Hypoplasia of the earlobesHypoplasia of the zygomatic boneMidface retrusionVisceral angiomatosis
Classification & Codes
MeSH Code
C565129Orphanet Code
ORPHA:1555Beare-Stevenson cutis gyrata syndrome
| MeSH | C565129 |
| Orphanet | ORPHA:1555 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO