Femoral-facial syndrome

Preferred Label : Femoral-facial syndrome;

Symbol : FFS;

CISMeF acronym : FFS; FHUFS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Femoral hypoplasia-unusual facies syndrome; FHUFS;

Description : Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).;

Inheritance : Isolated cases;

Prefixed ID : %134780;

Details

Origin ID

134780;

UMLS CUI

C0265263;

Automatic exact mappings (from CISMeF team)
- Fee for Service Payment Method [NCIt concept]
- Femoral-facial syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Femoral facial syndrome [MeSH concept]
- Femoral hypoplasia - unusual facies syndrome (disorder) [SNOMED CT concept]
- Femoral-facial syndrome [ORDO Disease]
- femoral facial syndrome [MeSH Supplementary Concept]
- femoral hypoplasia - unusual facies syndrome [SNOMED Notion]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal renal collecting system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Absent vertebra [HPO term]
- Aplasia/hypoplasia of the femur [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Dysplastic sacrum [HPO term]
- Esotropia [HPO term]
- Gastroesophageal reflux [HPO term]
- Hemivertebrae [HPO term]
- Humeroradial synostosis [HPO term]
- Hypoplastic acetabulae [HPO term]
- Hypoplastic labia majora [HPO term]
- Inguinal hernia [HPO term]
- Isolated cases [HPO term]
- Limited elbow movement [HPO term]
- Limited shoulder movement [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Maternal diabetes [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Missing ribs [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Poorly formed pinnae [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Pulmonic stenosis [HPO term]
- Radioulnar synostosis [HPO term]
- Renal agenesis [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Short fifth metatarsal [HPO term]
- Short fourth metatarsal [HPO term]
- Short humerus [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short third metatarsal [HPO term]
- Smooth philtrum [HPO term]
- Sporadic [HPO term]
- Sprengel anomaly [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Toe syndactyly [HPO term]
- Truncus arteriosus [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Variable humeri hypoplasia [HPO term]
- Ventricular septal defect [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Femoral-facial syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Femoral facial syndrome [MeSH concept]
- Femoral facial syndrome [MedDRA Preferred Term]
- Femoral hypoplasia - unusual facies syndrome (disorder) [SNOMED CT concept]
- Femoral-facial syndrome [ORDO Disease]
- femoral facial syndrome [MeSH Supplementary Concept]
- femoral hypoplasia - unusual facies syndrome [SNOMED Notion]

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