Overview
Femoral hypoplasia - unusual facies syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cleft of palate
Very frequent (80-99%)HP:0000175
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Short femur
Very frequent (80-99%)HP:0003097
Abnormal fibula morphology
Frequent (30-79%)HP:0002991
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Abnormality of pelvic girdle bone morphology
Frequent (30-79%)HP:0002644
Abnormality of the sacrum
Frequent (30-79%)HP:0005107
Aplasia/Hypoplasia of the tibia
Frequent (30-79%)HP:0005772
Coxa vara
Frequent (30-79%)HP:0002812
Decreased body height
Frequent (30-79%)HP:0004322
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Fetal foot inversion
Frequent (30-79%)HP:0001762
Increased length of philtrum
Frequent (30-79%)HP:0000343
Low-set ears
Frequent (30-79%)HP:0000369
Microtia
Frequent (30-79%)HP:0008551
Mongoloid slant
Frequent (30-79%)HP:0000582
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Oral cleft
Frequent (30-79%)HP:0000202
Polydactyly affecting the hallux
Frequent (30-79%)HP:0001841
11 pairs of ribs
Occasional (5-29%)HP:0000878
Abnormal localization of kidney
Occasional (5-29%)HP:0100542
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Cryptorchidism
Occasional (5-29%)HP:0000028
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Fused forearm bones
Occasional (5-29%)HP:0002974
Hemivertebra
Occasional (5-29%)HP:0002937
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Inguinal hernia
Occasional (5-29%)HP:0000023
Long penis
Occasional (5-29%)HP:0000040
Quick Facts
- SNOMED CT
- 13280000
- UMLS CUI
- C0265263
- Fully Specified Name
- Femoral hypoplasia - unusual facies syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.