Ehlers-Danlos syndrome progeroid type

MeSH: C536201ORPHA: 75496

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 Ehlers-Danlos syndrome progeroid type, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityCryptorchidismGingivitisMacrocephalyEpicanthusThin skinCutis laxaHyperextensible skinArachnodactylyHypotoniaGlobal developmental delayFlexion contractureGrowth delayPulmonic stenosisAortic valve stenosisPes planusShort statureProgeroid facial appearancePalmoplantar cutis gyrataLipodystrophyLong toeTesticular torsionNarrow mouthWide nasal bridgeTelecanthusSparse eyelashesOsteopeniaAtypical scarring of skinAbnormality of skin pigmentationAtrophic scarsAbnormal facial shapeSparse scalp hairSkeletal dysplasiaSkeletal muscle atrophySparse eyebrowKyphoscoliosisAbnormality of primary teeth

Classification & Codes

MeSH Code

C536201

Orphanet Code

ORPHA:75496
Ehlers-Danlos syndrome progeroid type
MeSHC536201
OrphanetORPHA:75496
Treatments0 drug(s)
Symptoms on record37 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO