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Orofaciodigital syndrome VIII(OFD8)

MedGen UID:: 208667
•Concept ID:: C0796101
•: Disease or Syndrome

Synonyms:	OFD syndrome 8; OFDS 8; OFDS VIII; Oral-facial-digital syndrome type 8; Oral-facial-digital syndrome with hypoplastic epiglottis; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII; Orofaciodigital syndrome 8
SNOMED CT:	Oro-facial digital syndrome type 8 (722106001); Orofaciodigital syndrome type 8 (722106001); Oral-facial-digital syndrome Edwards type (722106001); Orofaciodigital syndrome Edwards type (722106001)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0010336
OMIM®:	300484
Orphanet:	ORPHA2755

Definition

Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.

Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.

Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).

Abnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.

The signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.

Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.

Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). [from MedlinePlus Genetics]

Clinical features

From HPO

Hamartoma

MedGen UID:: 6713
•Concept ID:: C0018552
•: Neoplastic Process

A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.

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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".

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Polydactyly

MedGen UID:: 57774
•Concept ID:: C0152427
•: Congenital Abnormality

A congenital anomaly characterized by the presence of supernumerary fingers or toes.

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Short tibia

MedGen UID:: 338005
•Concept ID:: C1850259
•: Finding

Underdevelopment (reduced size) of the tibia.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Hypoplasia of the epiglottis

MedGen UID:: 235600
•Concept ID:: C1396772
•: Congenital Abnormality

Hypoplasia of the epiglottis.

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Recurrent aspiration pneumonia

MedGen UID:: 152887
•Concept ID:: C0747651
•: Disease or Syndrome

Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.

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High palate

MedGen UID:: 66814
•Concept ID:: C0240635
•: Congenital Abnormality

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

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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.

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Bifid nasal tip

MedGen UID:: 140870
•Concept ID:: C0426428
•: Finding

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.

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Broad nasal tip

MedGen UID:: 98424
•Concept ID:: C0426429
•: Finding

Increase in width of the nasal tip.

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Median cleft upper lip

MedGen UID:: 342454
•Concept ID:: C1850256
•: Congenital Abnormality

A type of cleft lip presenting as a midline (median) gap in the upper lip.

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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).

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Milia

MedGen UID:: 87528
•Concept ID:: C0345996
•: Anatomical Abnormality

Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.

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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).

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Strabismus

MedGen UID:: 21337
•Concept ID:: C0038379
•: Disease or Syndrome

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

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