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Oculodentodigital Dysplasia

Oculodentodigital Dysplasia Syndrome

Oculodentodigital dysplasia is a rare genetic disorder characterized by microphthalmia, tooth abnormalities and syndactyly between the fourth and fifth fingers.


Presentation

Oculodentodigital dysplasia (ODD dysplasia) syndrome may be inherited in an autosomal dominant or autosomal recessive manner. The typical clinical findings in this syndrome depend on the type of inheritance, with multiple organ systems being afflicted, namely the head, eyes, mouth cavity, skin, skeletal, and nervous system [1].

Patients with the autosomal dominant form of ODD dysplasia are usually born with microphthalmia with or without microcephaly. The other common ocular findings include glaucoma, strabismus, iris atrophy, micro cornea, epicanthic folds, a narrow palpebral fissure and atrophy of the eye [2] [3].

The dental problems occurring in patients with ODD dysplasia include small teeth predisposed to caries due to insufficient enamel. Irregular teeth, missing teeth, and early tooth loss are the other findings.

A slender nose with narrow and/or underdeveloped nostrils is another typical finding. Cleft lip or palate may also be observed.

A major sign of ODD dysplasia syndrome is the syndactyly between the fourth and the fifth fingers and/or the fourth and the fifth toes. Apart from being pathologically connected, the fingers and toes may also be unusually bent (camptodactyly).

In some cases, neurologic deficits may be present. Patients may suffer from ataxia, dysarthria, spastic paraplegia, deafness and problems with urination and defecation [4] [5] [6].

Palmoplantar keratoderma has also been reported in some patients. The hair may be fragile, dry, thin and shows extremely slow growth [7].

Signs and symptoms in the autosomal recessive form of ODD dysplasia are typically more severe. The eyes are extremely small and slender, with the interpupillary distance wider than normal. Some patients may even go completely blind. The skeletal changes are more pronounced and the bones of the skull, lower jaw, and the collar bone show an abnormal thickening.

ODD dysplasia must be distinguished from several other conditions presenting with similar symptoms. Foremost among these is the oro-cranio-digital syndrome, an autosomal recessive condition characterized by numerous abnormalities such as microcephaly, cleft lip and/or palate and growth retardation. This disorder is extremely rare and shows a slight female preponderance.

Amelogenesis imperfecta is another rare congenital condition in which defective formation of the tooth enamel results in the teeth being more sensitive to extremes of temperature. Early tooth loss with frequent dental infections are the other common clinical features.

A group of hereditary conditions, termed the ectodermal dysplasias, may also be a cause for defective enamel formation, with missing teeth and hair problems being the usual presenting features. Other organs derived from the ectodermal germ layer, most notably the skin, are also routinely affected.

Saethre-Chotzen syndrome is an autosomal dominant disorder, characterized by various malformations of the head, skeleton, and skin of the fingers and toes that may present with mental retardation.

Italian
  • A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including[ncbi.nlm.nih.gov]
Weight Gain
  • Treatment for presumed small bowel bacterial overgrowth with antibiotics and a reduced fat diet brought relief of diarrheal symptoms and produced weight gain.[ncbi.nlm.nih.gov]
Proportionate Short Stature
  • We report a case of a 6-year-old male who presented with dysmorphic facial features (short palpebral fissure, thin nose with hypoplastic alae nasi, and flat face), bilateral syndactyly, abnormal dentition, and proportionate short stature with growth hormone[ncbi.nlm.nih.gov]
Sudden Infant Death Syndrome
  • Cardiac arrhythmia caused by a Cx43 mutation (E42K) has been associated with “sudden infant death syndrome” (Van Norstrand et al., 2012 ), making it plausible that some of the ODDD mutations result in a cardiac phenotype.[ncbi.nlm.nih.gov]
Aspiration
  • Pancreatic function was normal, and culture of an aspirate from the jejunum revealed a mixed bacterial flora.[ncbi.nlm.nih.gov]
Steatorrhea
  • Steatorrhea was documented, but the usual methods for investigating this were thwarted by the patient's abnormal gastric anatomy and poor gastric motility.[ncbi.nlm.nih.gov]
Alopecia
  • 2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and[nfed.org]
Paresthesia
  • Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3).[ncbi.nlm.nih.gov]
Pyramidal Tract Signs
  • We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance.[ncbi.nlm.nih.gov]

Workup

A proper diagnosis rests on the identification of the typical clinical features of ODD dysplasia. However, the symptoms and their severity vary from case to case and hence, the recognition of this disorder based primarily on its clinical manifestations is not always apparent. When ODD dysplasia is suspected, the diagnosis can be confirmed by certain molecular tests. The defective gene is situated on 6q chromosome and genetic mapping studies may help to further elucidate the precise location of the mutation [8] [9] [10].

White Matter Lesions
Gliosis
  • At the microscopic level, epileptic brain regions are characterized by injured neurons, gliosis, axonal sprouting, and the formation of new, aberrant, synaptic connections (reviewed in D'Ambrosio, 2004 ; Dichter, 2009 ; Reid et al., 2009 ).[ncbi.nlm.nih.gov]

Treatment

  • Early diagnosis with a proper treatment plan and meticulous oral hygiene program helps eliminate the necessity of multiple tooth extractions.[ncbi.nlm.nih.gov]
  • This report describes the case of a 2.5-year-old white male with oculodentodigital dysplasia and his comprehensive dental treatment. Aggressive treatment to maintain the integrity of the patient's primary dentition was provided.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The authors emphasize the importance to know the principal features of ODD syndrome in order to make a correct diagnosis and the role of the dentist in the treatment of this pathology.[ncbi.nlm.nih.gov]
  • Treatment Currently, there is no cure for oculodentodigital dysplasia. Since the disorder displays itself physically, you may forego testing or treatment for the condition. However, complications may arise if you ignore symptoms.[0755szzc.com]

Prognosis

  • These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement.[ncbi.nlm.nih.gov]
  • Diagnosis and Prognosis: The diagnosis is based on the unique combination of bone and eye findings in the presence of typical facial features. It usually requires the collaborative efforts of geneticists, pediatricians and ophthalmologists.[disorders.eyes.arizona.edu]
  • Prognosis - Oculo digital syndrome Not supplied. Treatment - Oculo digital syndrome Not supplied. Resources - Oculo digital syndrome Not supplied.[checkorphan.org]
  • Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. Prenat Diagn 2009;29:1002-5. JB. Rivière, P. Dion, M. Shekarabi, N. Girard, L. Faivre, RG. Lafrenière, M. Samuel, GA. Rouleau.[gad-bfc.org]

Etiology

  • Etiology ODDD is caused by heterozygous mutations in the GJA1 gene (6q22-q23), which encodes the gap junction protein connexin 43 (Cx43). Over 40 causative mutations have been identified.[orpha.net]
  • Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause.[libreriauniversitaria.it]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.ro]
  • Summary Epidemiology To date, approximately 250 cases have been described worldwide (the majority of whom were white individuals). Clinical description The disease is characterized by wide intra- and interfamilial phenotypic variability.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • This volume provides neuroscience researchers and students with a single source for information covering the physiological, behavioral and pathophysiological roles of gap junctions in the brain.[books.google.de]
  • Spastic hypertonia and movement disorders: pathophysiology, clinical presentation, and quantification.[ncbi.nlm.nih.gov]

Prevention

  • To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities.[ncbi.nlm.nih.gov]
  • Be sure to brush regularly to prevent tooth decay, cavities, and gum disease. Consult an orthodontist to correct issues with your bite.[0755szzc.com]
  • Preventive procedures like caries control, topical fluorides, pit and fissure sealants, and preventive resin restorations should be initiated as early as possible.[jisppd.com]
  • Early recognition of the syndrome is of crucial importance in prevention and treatment of the wide variety of clinical manifestations. The documents contained in this web site are presented for information purposes only.[orpha.net]

References

Article

  1. Sugar H, Thompson J, Davis J. The oculodento-digital dysplasia syndrome. Am. J. Ophthalmol. 1966;61:1448-1451.
  2. Judisch G, Martin-Casals A, Hanson JOW. Oculodentodigital dysplasia: four new reports and a literature review. Arch. Ophthalmol. 1979;97:878-884.
  3. Vasconcellos J, Melo M, Schimiti R, Bressanim N, Costa F, Costa V. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Arch Ophthalmol. Oct 2005;123(10):1422-6.
  4. Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. May 2002;249(5):584-95.
  5. Boyadjiev S, Jabs E, LaBuda M, al. e. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. May 1999;58(1):34-40.
  6. Gutmann D, Zackai E, McDonald-McGinn D, Fischbeck K, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet. Oct 1991;41(1):18-20.
  7. Kelly S, Ratajczak P, Keller M, Purcell S, Griffin T, Richard G. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol. May-Jun 2006;16(3):241-5.
  8. Gladwin A, Donnai D, Metcalfe K, al. e. Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet. Jan 1997;6(1):123-7.
  9. Brueton L, Huson S, Farren B, Winter R. Oculodento-digital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? J. Med. Genet. 1990;27:169-175.
  10. Temtamy S, McKusick V. The genetics of hand malformations. Birth Defects. 1978;14:309-314.

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Last updated: 2019-07-11 20:23