Acrorenal-mandibular syndrome

Preferred Label : Acrorenal-mandibular syndrome;

CISMeF acronym : ARUMS;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Split-hand and split-foot with mandibular hypoplasia; Acrorenal-uterine-mandibular syndrome; ARUMS;

Description : Halal et al. (1980) described a French-Canadian family in which 2 sisters had an unusual combination of limb deficiencies and renal anomalies. The first child had split feet and dysplastic polycystic kidneys in addition to a very hypoplastic mandible, right diaphragmatic hernia, and uterus didelphys. Her sister had split right hand and split feet, bilateral renal agenesis, uterus unicornis, rib and vertebral anomalies, and a hypoplastic mandible. The parents were second cousins. The mother had a septate uterus, while a healthy sister was found to have a right duplex renal collecting system. The limbs of the mother and the healthy sister were normal. Fitch (1981) called attention to an earlier report by Fitch and Lachance (1972) of a similarly affected girl who had split-hand and split-foot defects, bilateral renal hypoplasia, and a bicornuate uterus. The jaw was apparently normal. Evans et al. (2000) reported a Canadian Aboriginal family in which 3 sibs, born to third-cousin parents, had a similar syndrome. The first affected sib died within 1 hour after birth. The third affected sib resulted from a spontaneous vaginal delivery of a macerated stillbirth at 34 weeks' gestation. Evans et al. (2000) reviewed 2 similarly affected sibs reported by Hennekam et al. (1994) as possible Bartsocas-Papas syndrome (263650). The disorder in the 5 cases of Evans et al. (2000) and Hennekam et al. (1994) appeared to have a more severe type of acrorenal disorder, inherited as an autosomal recessive. Tobias et al. (2001) described what they considered to be the first male case of acrorenal-mandibular syndrome, in an 18-week-old fetus. The fetus had bilateral renal agenesis, marked mandibular hypoplasia, and a claw-like deformity of the left foot resulting from a combination of ectrodactyly, syndactyly, and polydactyly. The fetus also had a narrow head, downslanting palpebral fissures, slight webbing of the neck, low-set posteriorly rotated ears, a long flat philtrum, choanal stenosis, midflexion contractures of the left shoulder and elbow joints, and a varus deformity of the feet. *FIELD* RF 1. Evans, J. A.; Phillips, S.; Reed, M.; Chodirker, B. N.: Severe acro-renal-uterine-mandibular syndrome. Am. J. Med. Genet. 93: 67-73, 2000. 2. Fitch, N.: Letters to the editor. (Letter) Am. J. Med. Genet. 8: 469 only, 1981. 3. Fitch, N.; Lachance, R. C.: The pathogenesis of Potter's syndrome of renal agenesis. Canad. Med. Assoc. J. 107: 653-656, 1972. 4. Halal, F.; Desgranges, M.-F.; Leduc, B.; Theoret, G.; Bettez, P. : Acro-renal-mandibular syndrome. Am. J. Med. Genet. 5: 277-284, 1980. 5. Hennekam, R. C. M.; Huber, J.; Variend, D.: Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome? Am. J. Med. Genet. 53: 102-107, 1994. 6. Tobias, E. S.; Patrick, W. J. A.; MacKenzie, J. R.; Whiteford, M. L.: A case of acro-renal-mandibular syndrome in an 18 week male fetus. Clin. Dysmorph. 10: 61-64, 2001. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 200980;

Details

Origin ID

200980;

UMLS CUI

C1860166;

Automatic exact mappings (from CISMeF team)
- Acro-renal-mandibular syndrome [ICD-11 More detail]
- Arum maculatum plant [ICD-11 Extension code]
- Genus Arum (organism) [SNOMED CT concept]
- arum [MeSH Descriptor]
- arum [MeSH concept]
- arum, nos [SNOMED Notion]
CISMeF manual mappings
- Acrorenal mandibular syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acro-renal-mandibular syndrome [ORDO Disease]
- Acrorenal mandibular syndrome [MeSH concept]
- acrorenal mandibular syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal sacral segmentation [HPO term]
- Abnormality of the breast [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Abnormality of the ureter [HPO term]
- Absent nipple [HPO term]
- Aplasia of the bladder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Butterfly vertebrae [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Foot polydactyly [HPO term]
- Hand polydactyly [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic scapulae [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Missing ribs [HPO term]
- Narrow chest [HPO term]
- Narrow palate [HPO term]
- Oligohydramnios [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Rudimentary fibula [HPO term]
- Rudimentary to absent tibiae [HPO term]
- Scaphocephaly [HPO term]
- Severe micrognathia [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Thin ribs [HPO term]
- Toe syndactyly [HPO term]
- Unicornuate uterus [HPO term]
- Uterus didelphys [HPO term]
ORDO concept(s)
- Acro-renal-mandibular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acro-renal-mandibular syndrome [ORDO Disease]
- Acrorenal mandibular syndrome [MeSH concept]
- Acrorenal mandibular syndrome (disorder) [SNOMED CT concept]
- acrorenal mandibular syndrome [MeSH Supplementary Concept]

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