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Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

MedGen UID:
1801714
•Concept ID:
C5680056
•
Disease or Syndrome
Synonyms: Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome; Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome; autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
SNOMED CT: Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (1229999001); Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome (1229999001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018601
Orphanet: ORPHA440354

Definition

A rare primary bone dysplasia with characteristics of micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapula, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion and cleft palate. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Recent clinical studies

Etiology

Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
Melnick M, Hodes ME, Nance WE, Yune H, Sweeney A
Clin Genet 1978 May;13(5):425-42. doi: 10.1111/j.1399-0004.1978.tb04142.x. PMID: 657583

Diagnosis

Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325
Renal coloboma syndrome.
Schimmenti LA
Eur J Hum Genet 2011 Dec;19(12):1207-12. Epub 2011 Jun 8 doi: 10.1038/ejhg.2011.102. PMID: 21654726Free PMC Article
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article
Otodental syndrome.
Bloch-Zupan A, Goodman JR
Orphanet J Rare Dis 2006 Mar 21;1:5. doi: 10.1186/1750-1172-1-5. PMID: 16722606Free PMC Article
Branchio-oculo-facial syndrome.
Raveh E, Papsin BC, Forte V
Int J Pediatr Otorhinolaryngol 2000 Jun 30;53(2):149-56. doi: 10.1016/s0165-5876(00)00310-4. PMID: 10906521

Therapy

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.
Kita M, Kuwata Y, Usui T
Auris Nasus Larynx 2019 Oct;46(5):808-812. Epub 2018 Nov 2 doi: 10.1016/j.anl.2018.10.005. PMID: 30396722
Camurati-Engelmann disease--a rare cause of bone pain.
Mundra V, Taxel P
Conn Med 2012 Jan;76(1):33-7. PMID: 22372177
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.
Lazic T, Li Q, Frank M, Uitto J, Zhou LH
Pediatr Dermatol 2012 May-Jun;29(3):349-57. Epub 2011 Oct 20 doi: 10.1111/j.1525-1470.2011.01425.x. PMID: 22011219
Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).
Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672

Prognosis

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
Choo DI, Tawfik KO, Martin DM, Raphael Y
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):439-449. Epub 2017 Oct 30 doi: 10.1002/ajmg.c.31587. PMID: 29082607Free PMC Article
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article

Clinical prediction guides

Cochlear Implantation in Craniometaphyseal Dysplasia.
Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.
Liu A, Wu M, Guo X, Guo H, Zhou Z, Wei K, Xuan K
Medicine (Baltimore) 2017 Feb;96(5):e6014. doi: 10.1097/MD.0000000000006014. PMID: 28151902Free PMC Article
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N
Nephrol Dial Transplant 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. PMID: 27387476
The earpits-deafness syndrome. Clinical and genetic aspects.
Cremers CW, Fikkers-Van Noord M
Int J Pediatr Otorhinolaryngol 1980 Nov;2(4):309-22. doi: 10.1016/0165-5876(80)90036-1. PMID: 6964893

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