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Terminal osseous dysplasia-pigmentary defects syndrome(ODPF; TOD; TODPD)

MedGen UID:
335344
Concept ID:
C1846129
Disease or Syndrome
Synonyms: ODPD; ODPF SYNDROME; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; Terminal osseous dysplasia; TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Gene (location): FLNA (Xq28)
 
Monarch Initiative: MONDO:0010279
OMIM®: 300244
Orphanet: ORPHA88630

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features.

Terminal osseous dysplasia occurs only in females; males with the condition do not survive to birth. The skeletal abnormalities in people with this condition typically include permanently bent fingers and toes (camptodactyly) and underdevelopment (hypoplasia), shortening, or fusion of the bones in the wrists and hands. The outer layer of bone (cortex) in other parts of the skeleton may be abnormal, and some affected individuals have bowed arms or legs or are shorter than their peers.

Skin abnormalities are also common in terminal osseous dysplasia. Many individuals with the condition have dark patches of skin on their face, often near the temples. In addition, affected infants commonly develop noncancerous (benign) tumors called fibromas on their fingers or toes. The tumors may reappear after being removed, but they tend to go away and stop reoccurring in childhood.

Other signs and symptoms can occur in people with terminal osseous dysplasia, including extra oral frenulae, which are the thin pieces of tissue in the mouth that connect the inside of the lips to the gums; widely spaced eyes; and hair loss. Some people with this condition have an abnormality in the muscular wall (septum) that separates the right and left sides of the heart (cardiac septal defect).

  https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia

Clinical features

From HPO
Fibroma
MedGen UID:
42016
Concept ID:
C0016045
Neoplastic Process
Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Abnormality of the lower limb
MedGen UID:
242750
Concept ID:
C1096086
Anatomical Abnormality
An abnormality of the leg.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Mesomelic arm shortening
MedGen UID:
350587
Concept ID:
C1862087
Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Mesomelic leg shortening
MedGen UID:
369436
Concept ID:
C1969178
Finding
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
Abnormal hand bone ossification
MedGen UID:
866888
Concept ID:
C4021244
Finding
An abnormality of the formation and mineralization of any bone of the skeleton of hand.
Toe clinodactyly
MedGen UID:
867400
Concept ID:
C4021770
Congenital Abnormality
Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Multiple joint contractures
MedGen UID:
57633
Concept ID:
C0158118
Acquired Abnormality
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Abnormal foot bone ossification
MedGen UID:
892416
Concept ID:
C4021241
Anatomical Abnormality
An abnormality of the formation and mineralization of any bone of the skeleton of foot.
Camptodactyly of toe
MedGen UID:
867404
Concept ID:
C4021774
Anatomical Abnormality
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Abnormal bone structure
MedGen UID:
871157
Concept ID:
C4025630
Anatomical Abnormality
Any anomaly in the composite material or the layered arrangement of the bony skeleton.
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal tip
MedGen UID:
347214
Concept ID:
C1859717
Finding
Decreased distance from the nasal tip to the nasal base.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Abnormal oral frenulum morphology
MedGen UID:
871385
Concept ID:
C4025881
Anatomical Abnormality
An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.
Localized skin lesion
MedGen UID:
208858
Concept ID:
C0850826
Finding
A lesion of the skin that is located in a specific region rather than being generalized.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality of the pigmentation of the skin.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTerminal osseous dysplasia-pigmentary defects syndrome
Follow this link to review classifications for Terminal osseous dysplasia-pigmentary defects syndrome in Orphanet.

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