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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

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

Mesomelic and rhizo-mesomelic dysplasia
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Recent clinical studies

Etiology

HDR syndrome: Large cohort and systematic review.

Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S
Clin Genet 2024 Nov;106(5):564-573. Epub 2024 Jun 28 doi: 10.1111/cge.14583. PMID: 38940299

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: 31660939 Free 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

See all (17)

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: 21654726 Free 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: 17222357 Free 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: 16722606 Free 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

See all (58)

Therapy

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

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

See all (5)

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

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: 29082607 Free 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

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Mol Genet Genomics 2015 Aug;290(4):1327-34. Epub 2015 Jan 30 doi: 10.1007/s00438-015-0995-9. PMID: 25633957 Free 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: 17222357 Free PMC Article

See all (14)

Clinical prediction guides

Alteration of Bone Density, Microarchitecture, and Strength in Patients with Camurati-Engelmann Disease: Assessed by HR-pQCT.

Li Q, Zhao Z, Wu B, Pang Q, Cui L, Zhang L, Jiang Y, Wang O, Li M, Xing X, Hu Y, Yu W, Meng X, Jiajue R, Xia W
J Bone Miner Res 2022 Jan;37(1):78-86. Epub 2021 Sep 28 doi: 10.1002/jbmr.4436. PMID: 34490910

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

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

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

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

See all (20)