Keipert syndrome

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(26.3%)		 9001804
 Keipert syndrome in two brothers from Turkey.
Balci S, Dagli S.
Clin Genet. 1996;50(4):223-8.
Depressed nasal bridge
Adult Congenital Foot Deformity Congenital Hand Deformities Dyspnea Face Homo sapiens Male Syndrome
2
(4.0%)		 17036315
 Daughter and her mildly affected father with Keipert syndrome.
Dumic M, Kokic DD, Matic T, Potocki K.
Am J Med Genet A. 2006;140(22):2488-92.
Hoarse voice
Adult Child Craniofacial Abnormalities Females Genes, Dominant Homo sapiens Limb Deformities, Congenital Phenotype Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0009836 Broad distal phalanx of finger Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010059 Broad hallux phalanx Very frequent (99-80%)
HP:0010109 Short hallux Very frequent (99-80%)
HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000327 Hypoplasia of the maxilla Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0001609 Hoarse voice Frequent (79-30%)
HP:0002263 Exaggerated cupid's bow Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0010624 Aplastic/hypoplastic toenail Frequent (79-30%)
HP:0010804 Tented upper lip vermilion Frequent (79-30%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001609 Hoarse voice 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID