Treacher-Collins syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Mandibulofacial dysostosis without limb anomalies
Franceschetti-Klein syndrome
Number of Symptoms 78
OrphanetNr: 861
OMIM Id: 154500
248390
613717
ICD-10: Q75.4
UMLs:
MeSH:
MedDRA:
Snomed: 82203000

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Eyebrow/eyelashes distichiasis
 -Rare eye disease
 -Rare genetic disease
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malposition of external canthus
 -Rare eye disease
 -Rare genetic disease
Mandibulofacial dysostosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Pierre Robin syndrome associated with branchial archs anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic palpebral coloboma
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
2
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
3
 (HPO:0000028) Cryptorchidism 7.5000 % [HPO] 347 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0000636) Upper eyelid coloboma 7.5000 % [HPO] 7 / 7739
6
 (HPO:0000160) Narrow mouth 7.5000 % [HPO] 188 / 7739
7
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
8
 (HPO:0000652) Lower eyelid coloboma 69.0000 % [HPO] 9 / 7739
9
 (HPO:0000162) Glossoptosis Occasional [Orphanet] 26 / 7739
10
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 89.0000 % [HPO] 277 / 7739
11
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
12
 (HPO:0007776) Sparse lower eyelashes 53.0000 % [HPO] 3 / 7739
13
 (HPO:0000625) Cleft eyelid Frequent [Orphanet] 31 / 7739
14
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
15
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
16
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
17
 (HPO:0002006) Facial cleft Occasional [Orphanet] 25 / 7739
18
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
19
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
20
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
21
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
22
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
23
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
24
 (HPO:0007633) Bilateral microphthalmos 7.5000 % [HPO] 13 / 7739
25
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
26
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
27
 (HPO:0000347) Micrognathia 78.0000 % [HPO] 426 / 7739
28
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 89.0000 % [HPO] 328 / 7739
29
 (HPO:0000154) Wide mouth Occasional [Orphanet] 7.5000 % [HPO] 137 / 7739
30
 (HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
31
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
32
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 7.5000 % [HPO] 76 / 7739
33
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
34
 (HPO:0000197) Abnormality of parotid gland 7.5000 % [HPO] 1 / 7739
35
 (HPO:0000185) Cleft soft palate 32.0000 % [HPO] 18 / 7739
36
 (HPO:0009555) Hypoplasia of the pharynx 7.5000 % [HPO] 2 / 7739
37
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
38
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
39
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
40
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
41
 (HPO:0009554) Projection of scalp hair onto lateral cheek 26.0000 % [HPO] 2 / 7739
42
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
43
 (HPO:0000294) Low anterior hairline Frequent [Orphanet] 52 / 7739
44
 (HPO:0000274) Small face Very frequent [Orphanet] 18 / 7739
45
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
46
 (HPO:0000508) Ptosis 7.5000 % [HPO] 459 / 7739
47
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
48
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
49
 (HPO:0007678) Lacrimal duct stenosis 7.5000 % [HPO] 8 / 7739
50
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
51
 (HPO:0000486) Strabismus Frequent [Orphanet] 7.5000 % [HPO] 576 / 7739
52
 (HPO:0000572) Visual loss Frequent [Orphanet] 37.0000 % [HPO] 272 / 7739
53
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 7.5000 % [HPO] 62 / 7739
54
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
55
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 36.0000 % [HPO] 49 / 7739
56
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 40.0000 % [HPO] 164 / 7739
57
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
58
 (HPO:0000377) Abnormality of the pinna 77.0000 % [HPO] 111 / 7739
59
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
60
 (HPO:0001249) Intellectual disability 5.0000 % [HPO] 1089 / 7739
61
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
62
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
63
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
64
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Very frequent [Orphanet] 7 / 7739
65
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
66
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
67
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
68
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
69
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
70
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
71
 (HPO:0001595) Abnormality of the hair Occasional [Orphanet] 89 / 7739
72
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
73
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
74
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
75
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Occasional [Orphanet] 17 / 7739
76
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
77
 (HPO:0030680) Abnormality of cardiovascular system morphology 7.5000 % [HPO] 355 / 7739
78
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: