Moebius syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MOEBIUS SEQUENCE
MOBIUS SYNDROME
MBS
Congenital facial diplegia
Möbius syndrome
Number of Symptoms 136
OrphanetNr: 570
OMIM Id: 157900
ICD-10: Q87.0
UMLs: C0221060
MeSH: D020331
MedDRA: 10030069
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 300 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Cranial nerve and nuclear aplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Nuclear oculomotor paralysis
 -Rare eye disease
 -Rare genetic disease
Paralytic facial malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0008734) Decreased testicular size 105 / 7739
4
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
5
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
8
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
9
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
10
 (HPO:0000932) Abnormality of the posterior cranial fossa 5 / 7739
11
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
12
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
13
 (HPO:0000193) Bifid uvula 11% [HPO:probinson] 66 / 7739
14
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
15
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
16
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
17
 (HPO:0001349) Facial diplegia 16 / 7739
18
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
19
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
20
 (HPO:0000316) Hypertelorism 25% [HPO:probinson] 644 / 7739
21
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
22
 (HPO:0000218) High palate 356 / 7739
23
 (HPO:0000347) Micrognathia 64% [HPO:probinson] 426 / 7739
24
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
25
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
26
 (HPO:0000470) Short neck 345 / 7739
27
 (HPO:0000568) Microphthalmia 183 / 7739
28
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
29
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
30
 (HPO:0000577) Exotropia 43 / 7739
31
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
32
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
33
 (HPO:0000565) Esotropia 58 / 7739
34
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
35
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
36
 (HPO:0001491) Congenital fibrosis of extraocular muscles 9 / 7739
37
 (HPO:0000377) Abnormality of the pinna 111 / 7739
38
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
39
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
40
 (HPO:0001270) Motor delay 322 / 7739
41
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
42
 (HPO:0000750) Delayed speech and language development 55% [HPO:probinson] 197 / 7739
43
 (HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
44
 (HPO:0002370) Poor coordination 15 / 7739
45
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
46
 (HPO:0001260) Dysarthria 329 / 7739
47
 (HPO:0001328) Specific learning disability 114 / 7739
48
 (HPO:0001288) Gait disturbance 318 / 7739
49
 (HPO:0001310) Dysmetria 76 / 7739
50
 (HPO:0001256) Intellectual disability, mild 141 / 7739
51
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
52
 (HPO:0002312) Clumsiness 28 / 7739
53
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
54
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
55
 (HPO:0005684) Distal arthrogryposis 31 / 7739
56
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
57
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
58
 (HPO:0009816) Lower limb undergrowth 6 / 7739
59
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
60
 (HPO:0001763) Pes planus 176 / 7739
61
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
62
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 8 / 7739
63
 (HPO:0009751) Aplasia of the pectoralis major muscle Frequent [Orphanet] 8 / 7739
64
 (HPO:0009803) Short phalanx of finger 79 / 7739
65
 (HPO:0001159) Syndactyly 140 / 7739
66
 (HPO:0001171) Split hand 72 / 7739
67
 (HPO:0001155) Abnormality of the hand 54 / 7739
68
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
69
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
70
 (HPO:0001840) Metatarsus adductus 49 / 7739
71
 (HPO:0004684) Talipes valgus 28 / 7739
72
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
73
 (HPO:0012385) Camptodactyly 113 / 7739
74
 (HPO:0001371) Flexion contracture 220 / 7739
75
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
76
 (HPO:0002804) Arthrogryposis multiplex congenita 6% [HPO:probinson] 93 / 7739
77
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
78
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
79
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
80
 (HPO:0004050) Absent hand Occasional [Orphanet] 9 / 7739
81
 (HPO:0001188) Hand clenching 9 / 7739
82
 (HPO:0100257) Ectrodactyly 27 / 7739
83
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
84
 (HPO:0009466) Radial deviation of finger 101 / 7739
85
 (HPO:0001761) Pes cavus 225 / 7739
86
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
87
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
88
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
89
 (HPO:0001597) Abnormality of the nail 115 / 7739
90
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
91
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
92
 (HPO:0002880) Respiratory difficulties 15 / 7739
93
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
94
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
95
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
96
 (MedDRA:10058668) Clinodactyly 91 / 7739
97
 (OMIM) Axial imbalance (34%) 1 / 7739
98
 (OMIM) Lower facial muscles may be spared 1 / 7739
99
 (OMIM) Other cranial nerves may be involved 1 / 7739
100
 (OMIM) Abducens nerve palsy 2 / 7739
101
 (OMIM) Hip defects 1 / 7739
102
 (OMIM) Abduction palsy, usually bilateral 1 / 7739
103
 (HPO:0003812) Phenotypic variability 129 / 7739
104
 (OMIM) Palatal weakness 1 / 7739
105
 (OMIM) Poorly-developed scrotum 1 / 7739
106
 (OMIM) Peripheral neuropathy has been reported in rare cases 1 / 7739
107
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
108
 (OMIM) MRI shows absence of the facial nerve 1 / 7739
109
 (OMIM) Tongue paresis, unilateral 1 / 7739
110
 (HPO:0003745) Sporadic 131 / 7739
111
 (OMIM) Limited tongue movement 1 / 7739
112
 (OMIM) Pharyngeal weakness 2 / 7739
113
 (OMIM) Facial paresis, usually bilateral 1 / 7739
114
 (OMIM) Weak bite 1 / 7739
115
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
116
 (OMIM) Absence of jaw rotation during chewing 1 / 7739
117
 (OMIM) Respiratory difficulties in infancy 1 / 7739
118
 (OMIM) Conjugated horizontal gaze palsy 1 / 7739
119
 (OMIM) Loss of sensation in the face (trigeminal nerve region, CN V) (11%) 1 / 7739
120
 (MedDRA:10072883) Brachydactyly 153 / 7739
121
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
122
 (OMIM) Adduction palsy, usually bilateral 1 / 7739
123
 (OMIM) MRI shows brainstem hypoplasia 1 / 7739
124
 (OMIM) Tongue hypoplasia (77%) 1 / 7739
125
 (OMIM) Duane retraction syndrome (34%) 1 / 7739
126
 (OMIM) MRI shows congenital abnormalities of the posterior fossa 1 / 7739
127
 (OMIM) Nail deformities 1 / 7739
128
 (OMIM) Nasal dysarthria 1 / 7739
129
 (OMIM) Teeth defects (37%) 1 / 7739
130
 (OMIM) External ear defects 2 / 7739
131
 (HPO:0030084) Clinodactyly 90 / 7739
132
 (OMIM) Asymmetric size of the tongue 1 / 7739
133
 (OMIM) Lacrimal duct defects 1 / 7739
134
 (OMIM) Low set thumbs 2 / 7739
135
 (OMIM) Anisomelia 1 / 7739
136
 (OMIM) Feeding problems in infancy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be ...
Clinical Description OMIM Congenital nonprogressive facial and abducens palsy was first described by Graefe (1880) and Moebius (1888). Harvey (1982) noted that Thomas had described the disorder in 1898. Congenital paralysis of the sixth and seventh cranial nerves was observed in ...
Population genetics OMIM Verzijl et al. (2003) estimated the incidence of Moebius syndrome in the Dutch population in 1996 to be 0.002% of births (4 in 189,000 births).