Terminal osseous dysplasia - pigmentary defects

General Information (adopted from Orphanet):

Synonyms, Signs: OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA
ODPF SYNDROME
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
TOD
ODPD
ODPF
TODPD
Number of Symptoms 19
OrphanetNr: 88630
OMIM Id: 300244
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 18 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acromelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Filamin-related bone disorder
 -Rare genetic disease
Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening 277 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000190) Abnormality of oral frenula 3 / 7739
4
 (HPO:0000612) Iris coloboma 116 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0004987) Mesomelic leg shortening rare [HPO:skoehler] 3 / 7739
8
 (HPO:0010660) Abnormal hand bone ossification 2 / 7739
9
 (HPO:0100490) Camptodactyly of finger 212 / 7739
10
 (HPO:0001863) Toe clinodactyly 12 / 7739
11
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
12
 (HPO:0001836) Camptodactyly of toe 27 / 7739
13
 (HPO:0002828) Multiple joint contractures 16 / 7739
14
 (HPO:0005011) Mesomelic arm shortening rare [HPO:skoehler] 13 / 7739
15
 (HPO:0010675) Abnormal foot bone ossification 3 / 7739
16
 (HPO:0001831) Short toe 52 / 7739
17
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
18
 (HPO:0011355) Localized skin lesion 3 / 7739
19
 (HPO:0010614) Fibroma 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).
Clinical Description OMIM Zhang et al. (2000) identified a novel limb-malformation syndrome in a 4-generation family. The syndrome was characterized by abnormal and delayed ossification of bones in the hands and feet, leading to brachydactyly, camptodactyly, and clinodactyly, severe limb deformities, ...
Molecular genetics OMIM In a family with terminal osseous dysplasia and pigmentary defects mapping to Xq28-qter, originally reported by Zhang et al. (2000), Brunetti-Pierri et al. (2010) sequenced the intron-exon junctions and exons of the candidate FAM58A (300708) and FLNA genes ...