Fine-Lubinsky syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FINE-LUBINSKY SYNDROME
Brachycephaly - deafness - cataract - intellectual deficit
Number of Symptoms 69
OrphanetNr: 1272
OMIM Id: 601353
ICD-10: Q87.8
UMLs: C0795941
MeSH: C537933
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
2
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
3
 (HPO:0000049) Shawl scrotum rare [HPO:skoehler] 31 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
6
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
7
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
8
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
9
 (HPO:0000586) Shallow orbits 23 / 7739
10
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
11
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
12
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
13
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
14
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] rare [HPO:skoehler] 328 / 7739
16
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
17
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
18
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
19
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
20
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
21
 (HPO:0000343) Long philtrum Frequent [Orphanet] rare [HPO:skoehler] 262 / 7739
22
 (HPO:0000175) Cleft palate 349 / 7739
23
 (HPO:0000527) Long eyelashes rare [HPO:skoehler] 46 / 7739
24
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
25
 (HPO:0000272) Malar flattening 277 / 7739
26
 (HPO:0000485) Megalocornea rare [HPO:skoehler] 26 / 7739
27
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
28
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
29
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
30
 (HPO:0008551) Microtia rare [HPO:skoehler] 98 / 7739
31
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
32
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
33
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
34
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
35
 (HPO:0000365) Hearing impairment 539 / 7739
36
 (HPO:0000369) Low-set ears 372 / 7739
37
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
38
 (HPO:0001263) Global developmental delay 853 / 7739
39
 (HPO:0001249) Intellectual disability 1089 / 7739
40
 (HPO:0003187) Breast hypoplasia 17 / 7739
41
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
42
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
43
 (HPO:0001838) Rocker bottom foot Very frequent [Orphanet] 85 / 7739
44
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
45
 (HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
46
 (HPO:0000917) Superior pectus carinatum 11 / 7739
47
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
48
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
49
 (HPO:0002650) Scoliosis Very frequent [Orphanet] rare [HPO:skoehler] 705 / 7739
50
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
51
 (HPO:0001555) Asymmetry of the thorax Frequent [Orphanet] 15 / 7739
52
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
53
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
54
 (HPO:0012385) Camptodactyly 113 / 7739
55
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
56
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
57
 (HPO:0001510) Growth delay 295 / 7739
58
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
59
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
60
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
61
 (HPO:0002221) Absent axillary hair 6 / 7739
62
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
63
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
64
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
65
 (HPO:0002059) Cerebral atrophy 171 / 7739
66
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
67
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
68
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
69
 (HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fine and Lubinsky (1983) described a 2-year-old boy with psychomotor delay, brachycephaly, flat face, shallow orbits, hypertelorism, small mouth, cleft palate, cataract, deafness, rocker-bottom feet, and hypoplastic scrotum. Suthers et al. (1993) reported a 4-year-old boy with similar ...