Acro-renal-mandibular syndrome

A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(34.6%)		 7405959
 Acro-renal-mandibular syndrome.
Halal F, Desgranges MF, Leduc B, Theoret G, Bettez P.
Am J Med Genet. 1980;5(3):277-84.
Split hand
Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant, Newborn Kidney Mandible Orofaciodigital Syndromes
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0001171 Split hand Very frequent (99-80%)
HP:0001839 Split foot Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0006381 Rudimentary fibula Very frequent (99-80%)
HP:0006426 Rudimentary to absent tibiae Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000768 Pectus carinatum Frequent (79-30%)
HP:0000813 Bicornuate uterus Frequent (79-30%)
HP:0000883 Thin ribs Frequent (79-30%)
HP:0000889 Abnormality of the clavicle Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0002089 Pulmonary hypoplasia Frequent (79-30%)
HP:0002827 Hip dislocation Frequent (79-30%)
HP:0003762 Uterus didelphys Frequent (79-30%)
HP:0004408 Abnormality of the sense of smell Frequent (79-30%)
HP:0010669 Hypoplasia of the zygomatic bone Frequent (79-30%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000275 Narrow face Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0000882 Hypoplastic scapulae Occasional (29-5%)
HP:0000912 Sprengel anomaly Occasional (29-5%)
HP:0002101 Abnormal lung lobation Occasional (29-5%)
HP:0002575 Tracheoesophageal fistula Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0002937 Hemivertebrae Occasional (29-5%)
HP:0003316 Butterfly vertebrae Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0010295 Aplasia/Hypoplasia of the tongue Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID