autosomal recessive spondylocostal dysostosis
MeSH: C535781ORPHA: 2311
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 autosomal recessive spondylocostal dysostosis, sourced from HPO and Orphanet clinical annotations.
Short neckAbnormal rib morphologyRib fusionIntrauterine growth retardationRespiratory insufficiencyScoliosisAbnormal form of the vertebral bodiesVertebral segmentation defectShort statureAbnormal intervertebral disk morphologyRib segmentation abnormalitiesShort thoraxAbnormality of immune system physiologyKyphosisAbnormal morphology of female internal genitaliaInguinal herniaCryptorchidismHypospadiasAbnormality of the ureterCleft palateMicrocephalyMacrocephalyProminent occiputBroad foreheadLong philtrumAnteverted naresCongenital diaphragmatic herniaIntellectual disabilityUmbilical herniaMeningoceleSpina bifida occultaDepressed nasal bridgePosteriorly rotated earsFinger syndactylyAnomalous pulmonary venous returnAbnormal cardiovascular system morphologyCamptodactyly of fingerUrogenital fistula
Classification & Codes
MeSH Code
C535781Orphanet Code
ORPHA:2311autosomal recessive spondylocostal dysostosis
| MeSH | C535781 |
| Orphanet | ORPHA:2311 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO