X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
ORPHA: 480880
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 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, sourced from HPO and Orphanet clinical annotations.
Global developmental delayModerate intellectual disabilityAbnormality of the genitourinary systemChoanal atresiaAbnormality of the eyeDandy-Walker malformationAnal atresiaHypoplasia of the corpus callosumAbnormal cortical gyrationShort statureDepigmentation/hyperpigmentation of skinFloppy infantPostaxial polydactylyRenal dysplasiaHydronephrosisAbnormality of the dentitionCleft palateGingival overgrowthHigh palateThin upper lip vermilionBrachycephalyFacial asymmetryNarrow foreheadLong philtrumPosteriorly rotated earsHearing impairmentLow-set earsWide nasal bridgeProminent noseFlared nostrilsAstigmatismStrabismusDownslanted palpebral fissuresTelecanthusCataractHypermetropiaMyopiaUpslanted palpebral fissureTooth malpositionDelayed pubertyOsteopeniaSacral dimpleHypertrichosisTapered fingerSlender fingerSeizureGait disturbanceCerebellar vermis hypoplasiaCerebellar hypoplasiaCongenital hip dislocationLimitation of joint mobilityJoint hypermobilityHip dysplasiaAtrial septal defectCardiomyopathyPatent ductus arteriosusPes cavusPes planusShort footHallux valgusOverlapping toeRespiratory distressVentriculomegalyDilated fourth ventricleCurly hairHypoplasia of the brainstemHypoplastic nipplesScoliosisNeoplasmThoracolumbar scoliosisCurved fingersAbnormal abdominal wall morphologyProminent nasolabial foldDepressed nasal bridgeHyperextensible thumbAplasia/Hypoplasia of the cerebellumPatellar subluxationProminent foreheadFeeding difficultiesBrain atrophyThick vermilion borderShort palpebral fissureWide nasal base5-minute APGAR score of 51-minute APGAR score of 1Abnormal circulating thyroid hormone concentrationCyst of the ductus choledochusSmall handRecurrent upper and lower respiratory tract infectionsAbnormal periodontium morphology
Classification & Codes
Orphanet Code
ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
| Orphanet | ORPHA:480880 |
| Treatments | 0 drug(s) |
| Symptoms on record | 90 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO