Odontotrichomelic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ODONTOTRICHOMELIC SYNDROME
Freire-Maia syndrome
Number of Symptoms 49
OrphanetNr: 2723
OMIM Id: 273400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed: 239028001

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
2
 (HPO:0003355) Aminoaciduria 65 / 7739
3
 (HPO:0011675) Arrhythmia 226 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0002353) EEG abnormality 188 / 7739
6
 (HPO:0002813) Abnormality of limb bone morphology Very frequent [Orphanet] 3 / 7739
7
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
8
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
9
 (HPO:0003057) Tetraamelia 3 / 7739
10
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
11
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
12
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Very frequent [Orphanet] 28 / 7739
13
 (HPO:0002557) Hypoplastic nipples 33 / 7739
14
 (HPO:0009115) Aplasia/hypoplasia involving the skeleton Very frequent [Orphanet] 7 / 7739
15
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
16
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
17
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
19
 (HPO:0001792) Small nail 55 / 7739
20
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
21
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
22
 (HPO:0000135) Hypogonadism 89 / 7739
23
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
24
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
25
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
26
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
27
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
28
 (HPO:0000204) Cleft upper lip 193 / 7739
29
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
30
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
31
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
32
 (HPO:0000464) Abnormality of the neck 31 / 7739
33
 (HPO:0000377) Abnormality of the pinna 111 / 7739
34
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
35
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
36
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
37
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
38
 (HPO:0000820) Abnormality of the thyroid gland Occasional [Orphanet] 19 / 7739
39
 (HPO:0100853) Hypoplastic areola 3 / 7739
40
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
41
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
44
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
45
 (OMIM) Abnormal ECG and EEG 1 / 7739
46
 (OMIM) High urinary tyrosine and/or tryptophane 1 / 7739
47
 (OMIM) Hypoplastic nipples and areolae 1 / 7739
48
 (OMIM) Incomplete cleft lip 1 / 7739
49
 (OMIM) Thyroid enlargement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: