Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia

Preferred Label : Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Facioauriculoradial dysplasia;

Description : Stoll et al. (1974) reported father and son with this combination. The arms were severely involved, with absent thumbs and index fingers. The father had bilateral deformity of the pinnae, more marked on the left, with stenosis of the external auditory canal and deafness on that side. The philtrum was long and prominent. The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. Harding et al. (1982) described mother and daughter with radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity. The facial appearance of the mother suggested mild maxillary hypoplasia. The right thumb was absent and a flexion contracture of the index finger was present on the right. The changes on the left were more severe with dislocation of the shoulder, absence of the radius, and marked shortening and bowing of the ulna, as well as absence of the thumb and hypoplasia of the second ray. The daughter had similar facial features and a long philtrum. Her right pinna was primitively formed and she had bilateral mesomelic shortening of the arms with rudimentary or absent thumbs. On the left, the radius was absent; on the right, there was a total synostosis of the shortened radius and ulna. Harding et al. (1982) suggested that their patients had the same disorder as that in the father and son reported by Stoll et al. (1974). *FIELD* RF 1. Harding, A. E.; Hall, C. M.; Baraitser, M.: Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia). J. Med. Genet. 19: 110-115, 1982. 2. Stoll, C.; Levy, J.-M.; Francfort, J.-J.; Roos, R.; Rohmer, A. : L'association phocomelie-ectrodactylie malformations des oreilles avec surdite, arythmie sinusale: constitue-t-elle un nouveau syndrome hereditaire? Arch. Franc. Pediat. 31: 669-680, 1974. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 171480;

Details

Origin ID

171480;

UMLS CUI

C1868390;

Currated CISMeF NLP mapping
- Phocomelia - ectrodactyly - deafness - sinus arrhythmia [ICD-11 More detail]
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) [SNOMED CT concept]
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome [ORDO Disease]
- Stoll Levy Francfort syndrome [MeSH concept]
- stoll levy francfort syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Absent radius [HPO term]
- Anterior vertebral fusion [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Arrhythmia [HPO term]
- Asymmetric radial dysplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow dislocation [HPO term]
- Fibular hypoplasia [HPO term]
- Genu varum [HPO term]
- Lateral clavicle hook [HPO term]
- Long clavicles [HPO term]
- Long philtrum [HPO term]
- Malar flattening [HPO term]
- Mesomelic arm shortening [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Phocomelia [HPO term]
- Radioulnar synostosis [HPO term]
- Short 2nd metacarpal [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Shoulder dislocation [HPO term]
- Split hand [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Ulnar bowing [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) [SNOMED CT concept]
- Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome [ORDO Disease]
- Stoll Levy Francfort syndrome [MeSH concept]
- stoll levy francfort syndrome [MeSH Supplementary Concept]

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