Microphthalmia with brain and digit anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA AND PITUITARY ANOMALIES
MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES
ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA
MCOPS6
Bakrania-Ragge syndrome
Syndromic microphthalmia type 6
Number of Symptoms 97
OrphanetNr: 139471
OMIM Id: 607932
ICD-10: Q11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000134) Female hypogonadism 1/5 [HPO] 5 / 7739
2
 (HPO:0000048) Bifid scrotum 1/6 [HPO] 36 / 7739
3
 (HPO:0000054) Micropenis 1/6 [HPO] 257 / 7739
4
 (HPO:0000028) Cryptorchidism 2/6 [HPO] 347 / 7739
5
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
6
 (HPO:0000089) Renal hypoplasia 1/6 [HPO] 78 / 7739
7
 (HPO:0000047) Hypospadias 1/6 [HPO] 250 / 7739
8
 (HPO:0000193) Bifid uvula 66 / 7739
9
 (HPO:0000347) Micrognathia 3/6 [HPO] 426 / 7739
10
 (HPO:0000528) Anophthalmia 9/10 [HPO] 42 / 7739
11
 (HPO:0000348) High forehead 157 / 7739
12
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
13
 (HPO:0000568) Microphthalmia hallmark [HPO] 183 / 7739
14
 (HPO:0001144) Orbital cyst 1/3 [HPO] 18252212 IBIS 4 / 7739
15
 (HPO:0000248) Brachycephaly 1/6 [HPO] 222 / 7739
16
 (HPO:0000218) High palate 3/6 [HPO] 356 / 7739
17
 (HPO:0000278) Retrognathia 2/6 [HPO] 100 / 7739
18
 (HPO:0011800) Midface retrusion 221 / 7739
19
 (HPO:0000315) Abnormality of the orbital region Occasional [Orphanet] 18 / 7739
20
 (HPO:0010538) Small sella turcica 1/6 [HPO] 3 / 7739
21
 (HPO:0001357) Plagiocephaly 1/9 [HPO] 106 / 7739
22
 (HPO:0000171) Microglossia 1/6 [HPO] 27 / 7739
23
 (HPO:0000175) Cleft palate 1/6 [HPO] 349 / 7739
24
 (HPO:0000252) Microcephaly Occasional [Orphanet] 3/6 [HPO] 832 / 7739
25
 (HPO:0004443) Lambdoidal craniosynostosis 1/10 [HPO] 15 / 7739
26
 (HPO:0011478) True anophthalmia 17 / 7739
27
 (HPO:0000324) Facial asymmetry 1/10 [HPO] 57 / 7739
28
 (HPO:0000272) Malar flattening 277 / 7739
29
 (HPO:0000589) Coloboma 3/5 [HPO] 18252212 IBIS 47 / 7739
30
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
31
 (HPO:0000482) Microcornea Frequent [Orphanet] 1/3 [HPO] 18252212 IBIS 102 / 7739
32
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
33
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
34
 (HPO:0000556) Retinal dystrophy 1/3 [HPO] 18252212 IBIS 65 / 7739
35
 (HPO:0000545) Myopia Occasional [Orphanet] 3/3 [HPO] 18252212 IBIS 286 / 7739
36
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 2/5 [HPO] 18252212 IBIS 25 / 7739
37
 (HPO:0000639) Nystagmus Occasional [Orphanet] 1/3 [HPO] 18252212 IBIS 555 / 7739
38
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
39
 (HPO:0000618) Blindness 8/11 [HPO] 124 / 7739
40
 (HPO:0000411) Protruding ear 1/11 [HPO] 140 / 7739
41
 (HPO:0000369) Low-set ears 1/11 [HPO] 372 / 7739
42
 (HPO:0009909) Uplifted earlobe 4 / 7739
43
 (HPO:0000358) Posteriorly rotated ears 1/11 [HPO] 163 / 7739
44
 (HPO:0000400) Macrotia 108 / 7739
45
 (HPO:0000365) Hearing impairment 2/6 [HPO] 539 / 7739
46
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
47
 (HPO:0001344) Absent speech 2/6 [HPO] 57 / 7739
48
 (HPO:0001263) Global developmental delay 5/9 [HPO] 853 / 7739
49
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
50
 (HPO:0000830) Anterior hypopituitarism 2/6 [HPO] 9 / 7739
51
 (HPO:0008245) Pituitary hypothyroidism 4 / 7739
52
 (HPO:0000835) Adrenal hypoplasia 1/6 [HPO] 23 / 7739
53
 (HPO:0000821) Hypothyroidism 2/9 [HPO] 141 / 7739
54
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
55
 (HPO:0009600) Flexion contracture of thumb 1/11 [HPO] 2 / 7739
56
 (HPO:0004209) Clinodactyly of the 5th finger 1/11 [HPO] 288 / 7739
57
 (HPO:0001177) Preaxial hand polydactyly 2/11 [HPO] 59 / 7739
58
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
59
 (HPO:0100258) Preaxial polydactyly 39 / 7739
60
 (HPO:0005819) Short middle phalanx of finger 1/11 [HPO] 28 / 7739
61
 (HPO:0001159) Syndactyly 140 / 7739
62
 (HPO:0000954) Single transverse palmar crease 162 / 7739
63
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
64
 (HPO:0001770) Toe syndactyly 149 / 7739
65
 (HPO:0003319) Abnormality of the cervical spine 1/10 [HPO] 6 / 7739
66
 (HPO:0001830) Postaxial foot polydactyly Occasional [Orphanet] 37 / 7739
67
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 1/11 [HPO] 198 / 7739
68
 (HPO:0001508) Failure to thrive 2/6 [HPO] 454 / 7739
69
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
70
 (HPO:0001252) Muscular hypotonia 2/6 [HPO] 990 / 7739
71
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
72
 (OMIM) Hypoplastic foreskin 1 / 7739
73
 (OMIM) Underdeveloped genitalia 1 / 7739
74
 (HPO:0001321) Cerebellar hypoplasia 1/9 [HPO] 114 / 7739
75
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
76
 (OMIM) Small cerebellum 6 / 7739
77
 (OMIM) Angular ears 1 / 7739
78
 (OMIM) Small scrotum 2 / 7739
79
 (MedDRA:10072883) Brachydactyly 153 / 7739
80
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
81
 (MedDRA:10058668) Clinodactyly 91 / 7739
82
 (OMIM) Small external auditory canals 2 / 7739
83
 (HPO:0030276) Small scrotum 2 / 7739
84
 (OMIM) Fleshy ears 3 / 7739
85
 (OMIM) Small triangular pinnae 1 / 7739
86
 (OMIM) Flexion of thumbs 1 / 7739
87
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 3/9 [HPO] 180 / 7739
88
 (HPO:0002119) Ventriculomegaly 3/9 [HPO] 253 / 7739
89
 (OMIM) Flat ears 1 / 7739
90
 (HPO:0007068) Inferior vermis hypoplasia 2/9 [HPO] 6 / 7739
91
 (HPO:0002120) Cerebral cortical atrophy 2/9 [HPO] 187 / 7739
92
 (OMIM) Absent optic nerves, chiasm, and tracts 1 / 7739
93
 (OMIM) Absent uterine horn 1 / 7739
94
 (OMIM) Pituitary anomalies 1 / 7739
95
 (HPO:0002188) Delayed CNS myelination 16 / 7739
96
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
97
 (HPO:0010999) Aplasia of the optic tract 2/6 [HPO] 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bennett et al. (1991) described a 21-week female fetus with histologically confirmed bilateral anophthalmia, retrognathia, brachycephaly, fleshy low-set angular ears, bilateral in-curving of the fifth digit with short middle phalanges and flexion of the thumbs, underdeveloped external genitalia, ...
Molecular genetics OMIM Deletions in 14q22-q23 are associated with anophthalmia-microphthalmia, brain, pituitary, and ear anomalies including structural defects and hearing loss, hypothyroidism, poly- and/or syndactyly, clinodactyly, high-arched palate, cryptorchidism, and developmental delay (e.g., Ahmad et al., 2003, Bennett et al., 1991). ...