Neurofaciodigitorenal syndrome

Preferred Label : Neurofaciodigitorenal syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Nfdr syndrome;

Description : Freire-Maia et al. (1982) described a 'new' syndrome in 2 brothers with nonconsanguineous parents. Features were mental retardation, highly abnormal EEG without seizures, vertical groove in tip of nose ('bifid' nose), prominent forehead, peculiarly shaped ears, short stature, and triphalangeal thumbs. One of the brothers had unilateral renal agenesis. Rump et al. (1997) reported a 39-year-old Dutch female with severe mental retardation and unusual facies, including brachycephaly, telecanthus, a grooved nasal tip, ptosis, and malformed ears; she also had broad halluces, congenital heart and renal defects, and an abnormal EEG with petit mal seizures. Features not previously seen in the NFDR syndrome included camptodactyly of the fourth fingers, dysplastic phalanges, ankylosis of the tarsal and metatarsal bones, and dysplastic hips. Megarbane (2001) reported 2 Lebanese sisters, whose parents were from the same small village, who had upslanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, high-arched palate, mental retardation, and abnormal EEG. The older sister also had double maxillary canines and skeletal anomalies, with partial syndactyly of the right third and fourth fingers, left thumb longer than the right, and genu valgum. Megarbane (2001) noted that the sisters did not have some of the features seen in the patients previously described by Freire-Maia et al. (1982) and Rump et al. (1997), such as hypotonia, abnormal ears, hyperextensible joints, broad halluces, and renal or heart defects, and suggested that this might represent a new autosomal recessive disorder. *FIELD* RF 1. Freire-Maia, N.; Pinheiro, M.; Opitz, J. M.: The neurofaciodigitorenal (NFDR) syndrome. Am. J. Med. Genet. 11: 329-336, 1982. 2. Megarbane, A.: A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation. Clin. Dysmorph. 10: 129-133, 2001. 3. Rump, P.; Gruijters, M. Y. C.; van der Burgt, C. J. A. M.: A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome? Clin. Dysmorph. 6: 337-340, 1997. *FIELD* CS Neuro: Mental retardation; No seizures;;

Inheritance : Autosomal recessive;

Prefixed ID : 256690;

Details

Origin ID

256690;

UMLS CUI

C0796088;

Currated CISMeF NLP mapping
- Neurofaciodigitorenal syndrome [MeSH concept]
- Neurofaciodigitorenal syndrome [ORDO Disease]
- Neurofaciodigitorenal syndrome (disorder) [SNOMED CT concept]
- neurofaciodigitorenal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nose [HPO term]
- EEG abnormality [HPO term]
- Frontal bossing [HPO term]
- Intellectual disability [HPO term]
- Midline defect of the nose [HPO term]
- Prominent forehead [HPO term]
- Short stature [HPO term]
- Triphalangeal thumb [HPO term]
- Unilateral renal agenesis [HPO term]
Not associated HPO term(s)
- Seizure [HPO term]
ORDO concept(s)
- Neurofaciodigitorenal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofaciodigitorenal syndrome [ORDO Disease]
- Neurofaciodigitorenal syndrome [MeSH concept]
- Neurofaciodigitorenal syndrome (disorder) [SNOMED CT concept]
- neurofaciodigitorenal syndrome [MeSH Supplementary Concept]

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