Syndromal microphthalmia

Classification according to ICD-10
Q11.2	Microphthalmos
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

Syndromal microphthalmia is a special form of microphthalmia that occurs in the context of syndromes , usually combined with other malformations .

distribution

Syndromic microphthalmia accounts for 30% of all microphthalmias.

Classification

• Syndromal microphthalmia type 1 (MCOPS1), synonym: Lenz syndrome ; Microphthalmia type Lenz; Microcephaly with multiple malformations
• Syndromal microphthalmia type 2 (MCOPS2), synonyms: Okulo-facio-cardio-dental syndrome ; OFCD SYNDROME; Cataract - microphthalmia - radiculomegaly - heart septal defect
• Syndromal microphthalmia type 3 (MCOPS3), mutations in the SOX2 gene in chromosome 3 locus q26.33
• Syndromal microphthalmia type 4 (MCOPS4), X-chromosomal- linked
• Syndromal microphthalmia type 5 (MCOPS5), synonym: Syndromal microphthalmia due to OTX2 gene mutation , mutations in the OTX2 gene in chromosome 14 q22.3
• Syndromal microphthalmia type 6 (MCOPS6), synonym: Bakrania-Ragge syndrome
• Syndromal microphthalmia type 7 (MCOPS7), synonym: MIDAS syndrome ; Microphthalmia - skin aplasia - sclerocornea; MLS syndrome; Microphthalmia - skin aplasia - sclerocornea
• Syndromal Microphthalmia Type 8 (MCOPS8), synonyms: MMEP syndrome; Viljoen Smart Syndrome; Microcephaly - microphthalmia - lower extremity ectrodactyly - prognathy; autosomal recessive
• Syndromal Microphthalmia Type 9 (MCOPS9), synonyms: Matthew Wood Syndrome ; Anophthalmia - pulmonary hypoplasia; MCOPS12; ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM; ANOPHTHALMIA / MICROPHTHALMIA AND PULMONARY HYPOPLASIA; SPEAR SYNDROME; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; PMD , autosomal recessive, mutations in the STRA6 gene in chromosome 15 q24.1
• Syndromal microphthalmia type 10 (MCOPS10), synonyms: MOBA syndrome ; Microphthalmia - brain atrophy; Microphthalmia and Brain Atrophy
• Syndromal microphthalmia type 11 (MCOPS11), autosomal recessive, mutations in the VAX1 gene in chromosome 19 q25.3
• Syndromal microphthalmia type 12 (MCOPS12), synonym: MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND / OR CARDIAC DEFECTS , autosomal dominant, mutations in the RARB gene in chromosome 3 p24.2
• Syndromal microphthalmia type 13 (MCOPS13), synonyms: microphthalmia-microcephaly syndrome x-linked; MAINE MICROPHTHALMOS; COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, AND PSYCHOMOTOR RETARDATION , X-linked, mutations in the HMGB3 gene at Xq28
• Syndromal microphthalmia type 14 (MCOPS14), synonym: MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA , autosomal dominant or recessive, mutations in the MAB21L2 gene in chromosome 4 q31.3
• Bd syndrome , synonym: mental retardation - athetosis - microphthalmia, English Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
• Bosma Syndrome , synonym: BOSMA Arhinia Microphthalmia Syndrome; Arrhinia-choanal atresia-microphthalmia
• Behrens-Baumann-Vogel syndrome , synonym: microphthalmia - aplasia of the optic nerves; Oculocerebral dysplasia
• Fronto-nasal dysplasia-severe microphthalmia-facial cleft syndrome , synonym: ALX1-dependent fronto-nasal dysplasia; FND3 , autosomal recessive, mutations in the ALX1 gene in chromosome 12 q21.31
• Teebi-al-Saleh-Hassoon syndrome , synonym: macrosomia - microphthalmia - cleft palate; English Macrosomia with Micriphthalmia, lethal
• Thomas-Jewett-Raines Syndrome , synonym: microphthalmia - microtia - fetal akinesia
• Microphthalmia - Retinitis pigmentosa - Foveoschisis - Drusenpapille Synonym: Microphthalmia isolated 5 , autosomal recessive, mutations in the MFRP gene in chromosome 11 q23.3
• Anophthalmia Syndactyly Syndrome , Synonyms: Anophthalmia - anomalies of the limbs; OAS; Opthalmo-acromelic syndrome; Waardenburg anophthalmia syndrome , mutations in the SMOC1 gene in chromosome 14 q24.2
• Fryns syndrome , synonym: Fryns microphthalmia syndrome; Anophthalmia plus syndrome

Individual evidence

1. ^ Syndromic microphthalmia. In: Orphanet (Rare Disease Database).
2. ↑ Nanophthalmia. In: Orphanet (Rare Disease Database).
3. ↑ Lenz type microphthalmia. In: Orphanet (Rare Disease Database).
4. ↑ Okulo-facio-cardio-dental syndrome. In: Orphanet (Rare Disease Database).
5. ↑ Anophthalmia / microphthalmia - esophageal atresia. In: Orphanet (Rare Disease Database).
6. ↑ Microphthalmia, syndromic 3.  In: Online Mendelian Inheritance in Man . (English)
7. ↑ Microphthalmia - ankyloblepharon - mental retardation. In: Orphanet (Rare Disease Database).
8. ↑ Syndromal microphthalmia type 5. In: Orphanet (database for rare diseases).
9. ↑ Microphthalmia, syndromic 5.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ Bakrania-Ragge Syndrome. In: Orphanet (Rare Disease Database).
11. ↑ Microphthalmia-linear skin defect syndrome. In: Orphanet (Rare Disease Database).
12. ^ Linear skin defects with multiple congenital anomalies 1.  In: Online Mendelian Inheritance in Man . (English)
13. ↑ MMEP syndrome. In: Orphanet (Rare Disease Database).
14. ↑ Microphthalmia, isolated, with coloboma 8.  In: Online Mendelian Inheritance in Man . (English)
15. ↑ Microphthalmia, syndromic 9.  In: Online Mendelian Inheritance in Man . (English)
16. ^ Matthew Wood Syndrome. In: Orphanet (Rare Disease Database).
17. ↑ Microphthalmia - Brain Atrophy. In: Orphanet (Rare Disease Database).
18. ↑ Microphthalmia, syndromic 11.  In: Online Mendelian Inheritance in Man . (English)
19. ↑ Microphthalmia, syndromic 12.  In: Online Mendelian Inheritance in Man . (English)
20. ↑ Microphthalmia, syndromic 13.  In: Online Mendelian Inheritance in Man . (English)
21. ↑ 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 .
22. ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome. In: Orphanet (Rare Disease Database).
23. ↑ MCOPS14.  In: Online Mendelian Inheritance in Man . (English)
24. ↑ Bd syndrome. In: Orphanet (Rare Disease Database).
25. ↑ G. Neuhäuser, EG Kaveggia, JM Opitz: Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies / mental retardation syndrome with athetoid cerebral palsy. In: Journal of Pediatrics. Vol. 120, No. 3, September 1975, pp. 191-198, PMID 1179793 .
26. ↑ Arrhinie - choanal - microphthalmia. In: Orphanet (Rare Disease Database).
27. ↑ ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA.  In: Online Mendelian Inheritance in Man . (English)
28. ↑ Dysplasia, oculo-cerebral. In: Orphanet (Rare Disease Database).
29. ↑ Fronto-nasal dysplasia-severe microphthalmia-cleft face syndrome. In: Orphanet (Rare Disease Database).
30. ^ Frontonasal dysplasia 3rd  In: Online Mendelian Inheritance in Man . (English)
31. ↑ Macrosomia - microphthalmia - cleft palate. In: Orphanet (Rare Disease Database).
32. ↑ MACROSOMIA WITH MICROPHTHALMIA, LETHAL.  In: Online Mendelian Inheritance in Man . (English)
33. ↑ Microphthalmia - microtia - fetal akinesia. In: Orphanet (Rare Disease Database).
34. ↑ Microphthalmia, isolated 5.  In: Online Mendelian Inheritance in Man . (English)
35. ↑ Microphthalmia - retinitis pigmentosa - foveoschisis - glandular papilla. In: Orphanet (Rare Disease Database).
36. ↑ Microphthalmia with limb abnormalities. In: Orphanet (Rare Disease Database).
37. ↑ Microphthalmia with limb anomalies.  In: Online Mendelian Inheritance in Man . (English)
38. ↑ Anophthalia plus syndrome. In: Orphanet (Rare Disease Database).

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