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Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

MedGen UID:
347225
•Concept ID:
C1859754
•
Disease or Syndrome
Synonyms: Aphalangy of the hands and feet, hemivertebrae, and visceral malformations; Aphalangy with Hemivertebrae; Johnson Munson syndrome
SNOMED CT: Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (733118006); Johnson Munson syndrome (733118006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008806
OMIM®: 207620
Orphanet: ORPHA1112

Definition

An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. [from SNOMEDCT_US]

Clinical features

From HPO
Ventricular septal defect
MedGen UID:
42366
•Concept ID:
C0018818
•
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
See: Feature record | Search on this feature
Abnormality of the genitourinary system
MedGen UID:
52948
•Concept ID:
C0042063
•
Congenital Abnormality
The presence of any abnormality of the genitourinary system.
See: Feature record | Search on this feature
Hemivertebrae
MedGen UID:
82720
•Concept ID:
C0265677
•
Congenital Abnormality
Absence of one half of the vertebral body.
See: Feature record | Search on this feature
Pulmonary hypoplasia
MedGen UID:
78574
•Concept ID:
C0265783
•
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
See: Feature record | Search on this feature
Aplasia of the phalanges of the toes
MedGen UID:
866876
•Concept ID:
C4021231
•
Finding
Absence of a digit or of one or more phalanges of a toe.
See: Feature record | Search on this feature
Aphalangy of hands and feet
MedGen UID:
892478
•Concept ID:
C4021887
•
Anatomical Abnormality
See: Feature record | Search on this feature
Aphalangy of the hands
MedGen UID:
870660
•Concept ID:
C4025114
•
Anatomical Abnormality
Absence of a digit or of one or more phalanges of a finger.
See: Feature record | Search on this feature
Ventricular septal defect
Abnormality of the genitourinary system
Hemivertebrae
Pulmonary hypoplasia
Aplasia of the phalanges of the toes
Aphalangy of hands and feet
Aphalangy of the hands

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Follow this link to review classifications for Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome in Orphanet.

Professional guidelines

PubMed

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
ACOG Practice Bulletin No. 194: Polycystic Ovary Syndrome.
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Gynecology
Obstet Gynecol 2018 Jun;131(6):e157-e171. doi: 10.1097/AOG.0000000000002656. PMID: 29794677
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Adrenal pheochromocytoma: Keys to radiologic diagnosis.
Corral de la Calle MA, Encinas de la Iglesia J, Fernández-Pérez GC, Repollés Cobaleda M, Fraino A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002. PMID: 36030082
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
PIK3CA vascular overgrowth syndromes: an update.
Hughes M, Hao M, Luu M
Curr Opin Pediatr 2020 Aug;32(4):539-546. doi: 10.1097/MOP.0000000000000923. PMID: 32692051
Hemangioma-related syndromes.
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

Hemangioma-related syndromes.
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Update on classification and diagnosis of vascular malformations.
McCuaig CC
Curr Opin Pediatr 2017 Aug;29(4):448-454. doi: 10.1097/MOP.0000000000000518. PMID: 28654575
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J
Clin Genet 2017 Jan;91(1):14-21. Epub 2016 Aug 3 doi: 10.1111/cge.12832. PMID: 27426476
Congenital malformations.
Corsello G, Giuffrè M
J Matern Fetal Neonatal Med 2012 Apr;25 Suppl 1:25-9. Epub 2012 Mar 14 doi: 10.3109/14767058.2012.664943. PMID: 22356564
The Noonan-CFC controversy.
Neri G, Zollino M, Reynolds JF
Am J Med Genet 1991 Jun 1;39(3):367-70. doi: 10.1002/ajmg.1320390323. PMID: 1867292

Therapy

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S
Nat Rev Drug Discov 2018 Apr;17(4):280-299. Epub 2017 Dec 8 doi: 10.1038/nrd.2017.221. PMID: 29217836Free PMC Article

Prognosis

Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Increased nuchal translucency with normal karyotype.
Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH
Am J Obstet Gynecol 2005 Apr;192(4):1005-21. doi: 10.1016/j.ajog.2004.12.093. PMID: 15846173
VATER Association.
Spoon JM
Neonatal Netw 2003 May-Jun;22(3):71-5. doi: 10.1891/0730-0832.22.3.71. PMID: 12795510

Clinical prediction guides

Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
Aicardi syndrome.
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ
Adv Pediatr 2001;48:75-113. PMID: 11480768
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

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