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Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

MedGen UID:
1372325
•Concept ID:
C4510568
•
Disease or Syndrome
Synonyms: Bosma arhinia-microphthalmia syndrome; Bosma Henkin Christiansen syndrome; Bosma-Henkin-Christiansen syndrome; Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome; hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
SNOMED CT: Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (724281002); Bosma Henkin Christiansen syndrome (724281002)
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.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016393
Orphanet: ORPHA2250

Definition

Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Professional guidelines

PubMed

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.
Stamou MI, Plummer L, Galli-Tsinopoulou A, Stergidou D, Koika V, Georgopoulos NA
Hormones (Athens) 2019 Mar;18(1):103-105. Epub 2018 Sep 25 doi: 10.1007/s42000-018-0061-1. PMID: 30255480Free PMC Article
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.
Schnur RE, Wick PA, Bailey C, Rebbeck T, Weleber RG, Wagstaff J, Grix AW, Pagon RA, Hockey A, Edwards MJ
Am J Hum Genet 1994 Sep;55(3):484-96. PMID: 7915878Free PMC Article

Recent clinical studies

Etiology

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.
Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM
J Med Genet 2024 Oct 23;61(11):1031-1039. doi: 10.1136/jmg-2024-109973. PMID: 39237363Free PMC Article
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
Noninvasive evaluation of anterior segment and tear film parameters and morphology of meibomian glands in a pediatric population with hypogonadism.
Dereli Can G, Kara Ö
Ocul Surf 2019 Oct;17(4):675-682. Epub 2019 Sep 6 doi: 10.1016/j.jtos.2019.09.001. PMID: 31499236
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
Visual capacity and Prader-Willi syndrome.
Fox R, Sinatra RB, Mooney MA, Feurer ID, Butler MG
J Pediatr Ophthalmol Strabismus 1999 Nov-Dec;36(6):331-6. doi: 10.3928/0191-3913-19991101-08. PMID: 11132665Free PMC Article

Diagnosis

Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. Epub 2014 May 16 doi: 10.1002/ajmg.c.31400. PMID: 24839169
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
The Alström syndrome: is it a rare or unknown disease?
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N
Ann Ital Med Int 2002 Oct-Dec;17(4):221-8. PMID: 12532560
Prader-Willi syndrome.
Libov AJ, Maino DM
J Am Optom Assoc 1994 May;65(5):355-9. PMID: 8071507

Therapy

Klinefelter syndrome associated with goniodysgenesis.
Matlach J, Grehn F, Klink T
J Glaucoma 2013 Jun-Jul;22(5):e7-8. doi: 10.1097/IJG.0b013e31824477ef. PMID: 22274665
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.
Pamuk BO, Torun AN, Kulaksizoglu M, Algan C, Ertugrul DT, Yilmaz Z, Tutuncu NB, Demirag NG
Med Princ Pract 2009;18(6):482-5. Epub 2009 Sep 30 doi: 10.1159/000235899. PMID: 19797926
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.
Simsek E, Simsek T, Tekgül S, Hosal S, Seyrantepe V, Aktan G
Acta Paediatr 2003;92(1):55-61. doi: 10.1111/j.1651-2227.2003.tb00469.x. PMID: 12650300
Visual capacity and Prader-Willi syndrome.
Fox R, Sinatra RB, Mooney MA, Feurer ID, Butler MG
J Pediatr Ophthalmol Strabismus 1999 Nov-Dec;36(6):331-6. doi: 10.3928/0191-3913-19991101-08. PMID: 11132665Free PMC Article
Isolated gonadotropin deficiency in boys: clinical characteristics and growth.
Van Dop C, Burstein S, Conte FA, Grumbach MM
J Pediatr 1987 Nov;111(5):684-92. doi: 10.1016/s0022-3476(87)80243-3. PMID: 2889818

Prognosis

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M
J Clin Endocrinol Metab 2020 May 1;105(5) doi: 10.1210/clinem/dgz182. PMID: 31689711
Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC
Brain 2013 Feb;136(Pt 2):522-35. Epub 2013 Jan 31 doi: 10.1093/brain/aws345. PMID: 23378218Free PMC Article
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM
J Pediatr 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. PMID: 20884005

Clinical prediction guides

Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM
J Pediatr 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032. PMID: 20884005
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.
Pamuk BO, Torun AN, Kulaksizoglu M, Algan C, Ertugrul DT, Yilmaz Z, Tutuncu NB, Demirag NG
Med Princ Pract 2009;18(6):482-5. Epub 2009 Sep 30 doi: 10.1159/000235899. PMID: 19797926
The Alström syndrome: is it a rare or unknown disease?
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N
Ann Ital Med Int 2002 Oct-Dec;17(4):221-8. PMID: 12532560

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