prominent glabella-microcephaly-hypogenitalism syndrome
MeSH: C537714ORPHA: 2083
Overview
Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions
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 prominent glabella-microcephaly-hypogenitalism syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismSmall scrotumHydronephrosisMicrocephalyDolichocephalyMicrognathiaPosteriorly rotated earsOverfolded helixMacrotiaProminent nasal bridgeUnderdeveloped nasal alaeShort neckThickened nuchal skin foldBrachydactylySeizureGlobal developmental delayHypertoniaGrowth delayIntrauterine growth retardationAbnormality of the voiceProminent glabellaVentriculomegalyHighly arched eyebrowShort noseWide intermamillary distanceBilateral single transverse palmar creasesHypoplasia of penisAbnormal hair patternShort palpebral fissureCamptodactyly of fingerCognitive impairment
Classification & Codes
MeSH Code
C537714Orphanet Code
ORPHA:2083prominent glabella-microcephaly-hypogenitalism syndrome
| MeSH | C537714 |
| Orphanet | ORPHA:2083 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO