Radius, aplasia of, with cleft lip/palate

MedGen UID:: 357270
•Concept ID:: C1867395
•: Disease or Syndrome

Synonym:	RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE

Monarch Initiative:	MONDO:0008361
OMIM®:	179400

Clinical features

From HPO

Absent radius

MedGen UID:: 235613
•Concept ID:: C1405984
•: Congenital Abnormality

Missing radius bone associated with congenital failure of development.

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Cleft upper lip

MedGen UID:: 40327
•Concept ID:: C0008924
•: Congenital Abnormality

A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.

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Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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Abnormality of head or neck
- Cleft palate
- Cleft upper lip
Abnormality of limbs
- Absent radius

Recent clinical studies

Etiology

Short-term molding effects on the upper alveolar arch following unilateral cleft lip repair with/without nasal vestibular expansion.

Fuchigami T, Nakamura N, Nishihara K, Matsunaga K, Hasegawa H
Cleft Palate Craniofac J 2014 Sep;51(5):557-68. Epub 2013 Sep 6 doi: 10.1597/12-317. PMID: 24010866

Orthodontic characteristics of maxillary arch deficiency in 5-year-old patients undergoing unilateral cleft lip and palate repair with and without early gingivoplasty.

Wojtaszek-Slominska A, Renkielska A, Dobke M, Gosman A, Slominski W
J Craniomaxillofac Surg 2010 Apr;38(3):155-9. Epub 2009 May 17 doi: 10.1016/j.jcms.2009.04.005. PMID: 19447636

Fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes.

Cobben JM, Essed CE, Hirdes J, Kraayenbrink RA, Van der Veen A
Genet Couns 1994;5(2):141-5. PMID: 7917121

The VATER Association.

Barnes JC, Smith WL
Radiology 1978 Feb;126(2):445-9. doi: 10.1148/126.2.445. PMID: 622495

See all (4)

Diagnosis

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.

Rabin R, Hirsch Y, Chung WK, Ekstein J, Levy-Lahad E, Zuckerman S, Mor-Shaked H, Meiner V, Booth KT, Pappas J
Am J Med Genet A 2022 Oct;188(10):3110-3117. Epub 2022 Aug 9 doi: 10.1002/ajmg.a.62943. PMID: 35943032

Orthodontic characteristics of maxillary arch deficiency in 5-year-old patients undergoing unilateral cleft lip and palate repair with and without early gingivoplasty.

Wojtaszek-Slominska A, Renkielska A, Dobke M, Gosman A, Slominski W
J Craniomaxillofac Surg 2010 Apr;38(3):155-9. Epub 2009 May 17 doi: 10.1016/j.jcms.2009.04.005. PMID: 19447636

Routine second-trimester ultrasonography in the United States: a cost-benefit analysis.

Vintzileos AM, Ananth CV, Smulian JC, Beazoglou T, Knuppel RA
Am J Obstet Gynecol 2000 Mar;182(3):655-60. doi: 10.1067/mob.2000.103943. PMID: 10739525

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer CG
J Craniofac Genet Dev Biol 1981;1(1):49-55. PMID: 7341641

The Roberts' syndrome.

Waldenmaier C, Aldenhoff P, Klemm T
Hum Genet 1978 Feb 16;40(3):345-9. doi: 10.1007/BF00272196. PMID: 631853

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Therapy

Orthodontic characteristics of maxillary arch deficiency in 5-year-old patients undergoing unilateral cleft lip and palate repair with and without early gingivoplasty.

Wojtaszek-Slominska A, Renkielska A, Dobke M, Gosman A, Slominski W
J Craniomaxillofac Surg 2010 Apr;38(3):155-9. Epub 2009 May 17 doi: 10.1016/j.jcms.2009.04.005. PMID: 19447636

Phenocopies.

Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695 Free PMC Article

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Prognosis

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174

See all (1)