Nance-Horan Syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Nance-Horan syndrome (NHS) is a very rare congenital disease with a mainly occurring in males combination of congenital cataract , dental abnormalities and facial dysmorphia .

Synonyms are: English cataract, X-linked, with Hutchinsonian teeth; Mesiodens-cataract syndrome

The name refers to the (first) authors of the first descriptions, which were made independently of each other, from 1974 by the US human geneticist Walter E. Nance and the Australian pediatrician Margaret B. Horan together with the ophthalmologist FA Billson.

distribution

The frequency is unknown; fewer than 40 affected families have been reported to date. Heredity is X-linked, incompletely dominant with a high degree of disease in the carriers .

root cause

The disease are mutations in the NHS - gene on the X chromosome locus p22.2-p22.1 basis.

Depending on the type of mutation, the clinical disease can have different degrees of severity.

Mutations in this gene are also involved in congenital X-linked cataracts .

Clinical manifestations

Clinical criteria are:

Eyes: congenital bilateral cataract (cataracta zonularis) (100%), microcornea (96%) with severe visual impairment (93%) up to blindness, microphthalmia , nystagmus , strabismus (43%)
Teeth: abnormal shape and number, excess central incisor (mesiodens), Hutchinson teeth , small molars
Ears: protruding little shaped auricles
short metacarpal bones
Facial dysmorphism : long face, accentuated nose, progeny

in addition, about a third may be a mild development deficit.

Female ( heterozygous ) sufferers show the same symptoms, but less or less clinically detectable.

diagnosis

The diagnosis is based on the clinical findings, possibly supplemented by x-rays of the teeth .

Differential diagnosis

The following are to be distinguished:

X-Linked Syndromic Microphthalmia
Lenz syndrome
Okulo-facio-cardio-dental syndrome
Lowe's syndrome (oculo-cerebro-renal syndrome)

therapy

Treatment of the eye changes depends on the severity, orthodontic measures may be necessary.

literature

S. Sharma, P. Datta, JR Sabharwal, S. Datta: Nance-Horan Syndrome: A Rare Case Report. In: Contemporary clinical dentistry. Volume 8, number 3, 2017 Jul-Sep, pp. 469-472, doi : 10.4103 / ccd.ccd_232_17 , PMID 29042737 , PMC 5644009 (free full text).

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e ^f Nance-Horan syndrome. In: Orphanet (Rare Disease Database).
^ WE Nance, M. Warburg, D. Bixler, EM Helveston: Congenital X-linked cataract, dental anomalies and brachymetacarpalia. In: Birth defects original article series. Volume 10, Number 4, 1974, pp. 285-291, PMID 4470901 .
^ MB Horan, FA Billson: X-linked cataract and Hutchinsonian teeth. In: Australian pediatric journal. Vol. 10, 1974, pp. 98-102.
↑ Nance-Horan syndrome. In: Online Mendelian Inheritance in Man . (English)
Jump up ↑ SP Brooks, M. Coccia, HR Tang, N. Kanuga, LM Machesky, M. Bailly, ME Cheetham, AJ Hardcastle: The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodeling and maintaining cell morphology. In: Human Molecular Genetics . Volume 19, number 12, June 2010, pp. 2421-2432, doi: 10.1093 / hmg / ddq125 , PMID 20332100 , PMC 2876887 (free full text).
↑ V. Hernández, I. Pascual-Camps, MJ Aparisi, M. Martínez-Matilla, F. Martínez, JA Cerón, L. Pedrola: Great clinical variability of Nance Horan syndrome due to deleterious mutations in two unrelated Spanish families. In: Ophthalmic genetics. Volume 40, number 6, December 2019, pp. 553-557, doi: 10.1080 / 13816810.2019.1692362 , PMID 31755796 .
↑ Cataract 40, X-linked. In: Online Mendelian Inheritance in Man . (English)
^ Cataracts-congenital-x-linked
↑ M. Coccia, SP Brooks, TR Webb, K. Christodoulou, IO Wozniak, V. Murday, M. Balicki, HA Yee, T. Wangensteen, R. Riise, AK Saggar, SM Park, N. Kanuga, PJ Francis, ER Maher, AT Moore, IM Russell-Eggitt, AJ Hardcastle: X-linked cataract and Nance-Horan syndrome are allelic disorders. In: Human Molecular Genetics . Volume 18, number 14, July 2009, pp. 2643-2655, doi: 10.1093 / hmg / ddp206 , PMID 19414485 , PMC 2701339 (free full text).
↑ L. Gómez-Laguna, A. Martínez-Herrera, AD Reyes-de la Rosa, C. García-Delgado, K. Nieto-Martínez, F. Fernández-Ramírez, TY Valderrama-Atayupanqui, AB Morales-Jiménez, J. Villa-Morales, S. Kofman, A. Cervantes, VF Morán-Barroso: Nance-Horan syndrome in females due to a balanced X; 1 translocation that disrupts the NHS gene: Familial case report and review of the literature. In: Ophthalmic genetics. Volume 39, number 1, 2018 Jan-Feb, pp. 56-62, doi: 10.1080 / 13816810.2017.1363245 , PMID 28922055 (review).

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] ↑ ^a ^b ^c ^d ^e ^f Nance-Horan syndrome. In: Orphanet (Rare Disease Database).

[3] WE Nance, M. Warburg, D. Bixler, EM Helveston: Congenital X-linked cataract, dental anomalies and brachymetacarpalia. In: Birth defects original article series. Volume 10, Number 4, 1974, pp. 285-291, PMID 4470901 .

[4] MB Horan, FA Billson: X-linked cataract and Hutchinsonian teeth. In: Australian pediatric journal. Vol. 10, 1974, pp. 98-102.

[5] Nance-Horan syndrome. In: Online Mendelian Inheritance in Man . (English)

[6] Jump up ↑ SP Brooks, M. Coccia, HR Tang, N. Kanuga, LM Machesky, M. Bailly, ME Cheetham, AJ Hardcastle: The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodeling and maintaining cell morphology. In: Human Molecular Genetics . Volume 19, number 12, June 2010, pp. 2421-2432, doi: 10.1093 / hmg / ddq125 , PMID 20332100 , PMC 2876887 (free full text).

[7] V. Hernández, I. Pascual-Camps, MJ Aparisi, M. Martínez-Matilla, F. Martínez, JA Cerón, L. Pedrola: Great clinical variability of Nance Horan syndrome due to deleterious mutations in two unrelated Spanish families. In: Ophthalmic genetics. Volume 40, number 6, December 2019, pp. 553-557, doi: 10.1080 / 13816810.2019.1692362 , PMID 31755796 .

[8] Cataract 40, X-linked. In: Online Mendelian Inheritance in Man . (English)

[9] Cataracts-congenital-x-linked

[10] M. Coccia, SP Brooks, TR Webb, K. Christodoulou, IO Wozniak, V. Murday, M. Balicki, HA Yee, T. Wangensteen, R. Riise, AK Saggar, SM Park, N. Kanuga, PJ Francis, ER Maher, AT Moore, IM Russell-Eggitt, AJ Hardcastle: X-linked cataract and Nance-Horan syndrome are allelic disorders. In: Human Molecular Genetics . Volume 18, number 14, July 2009, pp. 2643-2655, doi: 10.1093 / hmg / ddp206 , PMID 19414485 , PMC 2701339 (free full text).

[11] L. Gómez-Laguna, A. Martínez-Herrera, AD Reyes-de la Rosa, C. García-Delgado, K. Nieto-Martínez, F. Fernández-Ramírez, TY Valderrama-Atayupanqui, AB Morales-Jiménez, J. Villa-Morales, S. Kofman, A. Cervantes, VF Morán-Barroso: Nance-Horan syndrome in females due to a balanced X; 1 translocation that disrupts the NHS gene: Familial case report and review of the literature. In: Ophthalmic genetics. Volume 39, number 1, 2018 Jan-Feb, pp. 56-62, doi: 10.1080 / 13816810.2017.1363245 , PMID 28922055 (review).