Renal dysplasia-limb defects syndrome

Preferred Label : Renal dysplasia-limb defects syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Rl syndrome;

Description : Schrander-Stumpel et al. (1990) described newborn brother and sister who died shortly after birth from respiratory failure. They showed growth retardation with a Potter-like face, complete phocomelia of the upper limbs, severe hypoplasia of the 6 upper ribs, renal dysplasia and abnormalities of the external genitalia. They suggested that these cases represent the same entity reported by Ulbright et al. (1984). The syndrome appears to be lethal because of severe renal dysplasia which causes oligohydramnios and pulmonary hypoplasia. Schrander-Stumpel et al. (1990) suggested the designations 'renal dysplasia--limb defects syndrome (RL syndrome).' *FIELD* RF 1. Schrander-Stumpel, C.; de Die-Smulders, C.; Fryns, J. P.; da Costa, J.; Bouckaert, P.: Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome. Am. J. Med. Genet. 37: 133-135, 1990. 2. Ulbright, C. E.; Hodes, M. E.; Ulbright, T. M.: New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion. Am. J. Med. Genet. 17: 667-668, 1984. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 266910;

Details

Origin ID

266910;

UMLS CUI

C1849438;

Currated CISMeF NLP mapping
- Renal dysplasia - limb defects syndrome [MeSH concept]
- Ulbright-Hodes syndrome [ORDO Disease]
- renal dysplasia - limb defects syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Aplasia of the ulna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clitoral hypertrophy [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Dysplastic ears [HPO term]
- Fibular aplasia [HPO term]
- Flattened nasal bridge [HPO term]
- High palate [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic ribs [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Maternal diabetes [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Neonatal death [HPO term]
- Oligohydramnios [HPO term]
- Phocomelia [HPO term]
- Pneumothorax [HPO term]
- Prominent occiput [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Respiratory distress [HPO term]
- Respiratory failure [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Short sternum [HPO term]
- Single umbilical artery [HPO term]
- Talipes equinovarus [HPO term]
- Thin ribs [HPO term]
- Thin vermilion border [HPO term]
ORDO concept(s)
- Ulbright-Hodes syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renal dysplasia - limb defects syndrome [MeSH concept]
- Renal dysplasia with limb defect syndrome (disorder) [SNOMED CT concept]
- Ulbright-Hodes syndrome [ORDO Disease]
- renal dysplasia - limb defects syndrome [MeSH Supplementary Concept]

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