Flynn-Aird syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 50
OrphanetNr: 2047
OMIM Id: 136300
ICD-10: Q87.8
UMLs: C0343108
MeSH: C537066
MedDRA:
Snomed: 239056006

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Premature aging
 -Rare genetic disease
 -Rare skin disease
Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
2
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
3
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
4
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
5
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
6
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
7
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
9
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
10
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
11
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
12
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
13
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
14
 (HPO:0007178) Motor polyneuropathy 31 / 7739
15
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
16
 (HPO:0001251) Ataxia 413 / 7739
17
 (HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
18
 (HPO:0002922) Increased CSF protein 27 / 7739
19
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
20
 (HPO:0000726) Dementia 131 / 7739
21
 (HPO:0002381) Aphasia 27 / 7739
22
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
23
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
24
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
25
 (HPO:0000820) Abnormality of the thyroid gland Occasional [Orphanet] 19 / 7739
26
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
27
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
28
 (HPO:0000939) Osteoporosis 129 / 7739
29
 (HPO:0005700) Increased bone density with cystic changes 1 / 7739
30
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
31
 (HPO:0012062) Bone cyst Frequent [Orphanet] 19 / 7739
32
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
33
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
34
 (HPO:0002751) Kyphoscoliosis 131 / 7739
35
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
36
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
37
 (HPO:0004528) Generalized hypotrichosis 18 / 7739
38
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
39
 (HPO:0001596) Alopecia 162 / 7739
40
 (HPO:0004334) Dermal atrophy 34 / 7739
41
 (HPO:0000962) Hyperkeratosis 216 / 7739
42
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
43
 (HPO:0002289) Alopecia universalis 20 / 7739
44
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
45
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
46
 (OMIM) Dental caries, severe 5 / 7739
47
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
48
 (OMIM) Atypical retinitis pigmentosa 3 / 7739
49
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
50
 (OMIM) Chronic ulceration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 10 members of 5 generations of a family, Flynn and Aird (1965) observed a neuroectodermal syndrome with some similarities to the syndromes of Werner (277700), Refsum (266500), and Cockayne (216400). Features included the following: in the eye, ...