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short stature-craniofacial anomalies-genital hypoplasia syndrome

MeSH: C535844ORPHA: 2994

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 short stature-craniofacial anomalies-genital hypoplasia syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsTrigonocephalyEpicanthusMicroretrognathiaDelayed pubertyIntellectual disabilityFrontal bossingShort statureAbnormal retinal vascular morphologyHigh hypermetropiaMicrotiaAmniotic constriction ringFlat faceAbnormality of the dentitionCleft palateMicrocephalyHypertelorismShort neckHypothyroidismArachnodactylyLimitation of joint mobilityFinger syndactylyAbnormal cardiovascular system morphologyDownslanted palpebral fissuresTriphalangeal thumbEctopic anusShort distal phalanx of fingerCamptodactyly of finger

Classification & Codes

MeSH Code

C535844

Orphanet Code

ORPHA:2994
short stature-craniofacial anomalies-genital hypoplasia syndrome
MeSHC535844
OrphanetORPHA:2994
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO