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.

• Failure to Thrive

  […] to thrive. ( 25810671 ) Mahajan P.S....Mahajan P.S. 2015 42 Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient. ( 26220009 ) Shibata A....Tokita Y. 2015 43 Expansion of polyalanine tracts [malacards.org]

  […] to thrive Coloboma Milia Hypoplasia of the maxilla Rare Symptoms - Less than 30% cases Retinal fold Dental crowding Osteoporosis Edema Psychosis Scoliosis Narrow nose Long nose Stereotypy Retinoblastoma Overgrowth Delayed eruption of teeth Microcornea [mendelian.co]

• Microdontia

  Oral examination showed hypodontia, microdontia, dental caries and partial anodontia [Fig. 4]. The prominent mandible was seen. [ncbi.nlm.nih.gov]

  Oculodentodigital dysplasia Síndrome que cursa con microdontia, sindactilia bilateral y nariz pequeña asociándose múltiples anomalías a nivel ocular, siendo las más frecuentes el glaucoma y las alteraciones corneales. [translate.academic.ru]

  Our patient had ODDD features including long thin nose, micropthalmia, microcorneas, microdontia, syndactyly, camptodactyly, and developmental delays. [oatext.com]

• Tooth Loss

  Early tooth loss with frequent dental infections are the other common clinical features. [symptoma.com]

  The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. [ncbi.nlm.nih.gov]

  Tooth abnormalities, such as undersized or missing teeth, thin enamel, many cavities, and early tooth loss, are common in those who are affected. [news-medical.net]

  The majority of patients with ODDD have abnormal primary and permanent dentition with microdontia, partial anodontia, enamel hypoplasia, multiple caries and early tooth loss. [orpha.net]

• Small Teeth

  Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. [ncbi.nlm.nih.gov]

  A middle-aged patient presented with mild facial dysmorphisms, small teeth with enamel hypoplasia, progressive gait disturbances, memory problems, and history of syndactyly, corrected in early childhood. [n.neurology.org]

  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. [symptoma.com]

  However, a dentist will notice the following abnormalities in patients with oculodentodigital dysplasia: Abnormally small teeth Numerous missing teeth Excessive cavities Weak enamel Heavy discoloration Overgrowth of lower jaw It is important to note that [0755szzc.com]

  teeth Small teeth Premature loss of teeth Dental caries Taurodontism (pulp chamber in molar teeth is enlarged – reported in 1 patient) Skin/Hair Yellow-orange thick skin on palms and soles Fine, dry, sparse, slow growing hair Eyes Small cornea Small [nfed.org]

• Premature Loss of Teeth

  teeth Small teeth Premature loss of teeth Dental caries Taurodontism (pulp chamber in molar teeth is enlarged – reported in 1 patient) Skin/Hair Yellow-orange thick skin on palms and soles Fine, dry, sparse, slow growing hair Eyes Small cornea Small [nfed.org]

  loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Selective tooth agenesis 0001592 Short middle phalanx of the 5th finger Short middle bone of the little finger Short middle bone of the pinkie finger [rarediseases.info.nih.gov]

  Dental abnormalities, such as hypoplastic enamel, small teeth, and premature loss of teeth, are often present [2–4]. Digit abnormalities may include syndactyly, camptodactyly, and midphalangeal hypoplasia [2–4]. [hindawi.com]

  loss of primary teeth　(乳歯早期喪失]　[HP:0006323]　[08308] 　Reduced number of teeth　(歯数減少)　[HP:0009804]　[08301] 　Toe syndactyly　(合趾)　[HP:0001770]　[15407] 　Underdeveloped nasal alae　(鼻翼未発達)　[HP:0000430]　[0741] 　 　<30%-79%> 　Abnormal cortical bone morphology　 [syndromefinder.ncchd.go.jp]

• Visual Impairment

  impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Abnormal diaphysis morphology Abnormal shape of shaft of long bone 0000940 Abnormal form of the vertebral bodies 0003312 Abnormality iris morphology [rarediseases.info.nih.gov]

  Neuro-ophthalmological findings include ptosis, nystagmus, gaze palsies, squint and visual impairment that is probably related to glaucoma or amblyopia. 2 No neuropathological postmortem findings have been reported yet in these patients. 2 Less common [acnr.co.uk]

  impairment　(視力障害)　[HP:0000505]　[06011] 　 　<5%-29%> 　Abnormal diaphysis morphology　(骨幹形態異常)　[HP:0000940]　[160022] 　Abnormal form of the vertebral bodies　(椎体骨異常)　[HP:0003312]　[1615] 　Abnormality iris morphology　(虹彩形態異常)　[HP:0000525]　[06112] 　Abnormality [syndromefinder.ncchd.go.jp]

• Esotropia

  臨床評価 Clinical Studies and Original Articles Objective visual acuity estimation by optikinetic nystagmus inhibition test / 岩井玲子・他/p1687～1691 ・ 臨床報告 非調節性間歇性内斜視の臨床像 Clinical Studies and Original Articles Clinical features of non-accommodative intermittent esotropia [dl.ndl.go.jp]

  Note that 1 patient had both nystagmus and esotropia [71]. [hindawi.com]

• Visual Acuity Decreased

  Loss of visual acuity (decreased sharp vision) or blindness result from atrophy of the optic nerve that relays visual information from the retina (via the thalamus) to the visual cortex. [ncbi.nlm.nih.gov]

• Long Arm

  Monsomy of the long arm of chromosome 12 is a rare laboratory finding with 11 previous reports. [oatext.com]

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. [rarediseases.org]

  arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes [mendelian.co]

• 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]

  The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. [pubmed.ncbi.nlm.nih.gov]

  Chronic cheilitis and perléche are common, whereas hair and nail dystrophy, scarring alopecia, dental anomalies and heat intolerance are less frequent. [sajr.org.za]

  SYNDROME Albinism Deafness Syndrome Aldred Syndrome Alice in Wonderland Syndrome Alien Hand Syndrome ALKURAYA-KUCINSKAS SYNDROME Allan-Herndon-Dudley syndrome Allanson Pantzar McLeod Syndrome + allergic cutaneous vasculitis + Aloi Tomasini Isaia Syndrome Alopecia [rgd.mcw.edu]

  […] bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Hydrocephalus Abnormality of dental morphology Respiratory insufficiency Alopecia [mendelian.co]

• Palmoplantar Keratosis

  It has been believed that gene mutations causing truncation of the Cx43 C-terminus is necessary and sufficient for palmoplantar keratosis (PPK) development in ODDD patients. [ncbi.nlm.nih.gov]

  Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. J Dermatol 2014;41:1095–1097. 8. Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC. [e-jmd.org]

  Miyachi, “Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43,” The Journal of Dermatology, vol. 41, no. 12, pp. 1095–1097, 2014. View at: Publisher Site | Google Scholar S. [hindawi.com]

• Narrow Nose

  Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. [ncbi.nlm.nih.gov]

  Physical examination showed facial dysmorphism, in-cluding narrow nose with hypoplastic alae nasi and thin, anteverted nos-trils; narrow palpebral fissures; and bilateral microcornea and microphtalmi(Fig. 1), along with bilateral complete syndactyly of [pdfslide.net]

  They also had a narrow nose with hypoplastic alae nasi. [academic.oup.com]

• Ataxia

  Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin [ncbi.nlm.nih.gov]

  Remarkably, neurological symptoms such as dysarthria, neurogenic bladder (manifested as urinary incontinence), spasticity or muscle weakness, ataxia, and epilepsy are other prominent features observed in ODDD patients. [biblio.ugent.be]

  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). [doi.org]

  Neurologic symptoms are inconsistent but frequent and include dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures. Some patients have dysplastic ears and conductive hearing loss. [orpha.net]

• Dysarthria

  Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin [ncbi.nlm.nih.gov]

  Remarkably, neurological symptoms such as dysarthria, neurogenic bladder (manifested as urinary incontinence), spasticity or muscle weakness, ataxia, and epilepsy are other prominent features observed in ODDD patients. [biblio.ugent.be]

  Neurologic symptoms are inconsistent but frequent and include dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures. Some patients have dysplastic ears and conductive hearing loss. [orpha.net]

  Patients may suffer from ataxia, dysarthria, spastic paraplegia, deafness and problems with urination and defecation. Palmoplantar keratoderma has also been reported in some patients. [symptoma.com]

  Basal ganglia calcification (calcium deposits in the basal ganglia) Cerebral white matter abnormalities Dysarthria (a motor speech disorder characterized by poor articulation) Hyperactive deep tendon reflexes Mental retardation (rare) Neurogenic bladder [nfed.org]

• Spastic Paraplegia

  KEYWORDS Oculo-dento-digital syndrome; spastic paraplegia Oculo-dento-digital (ODD) syndrome as defined by Meyer-Schwickerath in19571 is a rare entity (84 cases) that belongs to the ectodermal dysplasias. [pdfslide.net]

  This autosomal dominant syndrome presents with craniofacial (ocular, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. [ncbi.nlm.nih.gov]

  Amel Boughammoura-Bouatay, Saber Chebel, Mouna Aissi and Mahbouba Frih-Ayed, A Tunisian Case of Oculo-dento-digital Syndrome Revealed by Spastic Paraplegia, Neuro-Ophthalmology, 31, 3, (55), (2007). [doi.org]

• Global Developmental Delay

  Related symptoms: Autosomal dominant inheritance Seizures Global developmental delay Pica Microcephaly SOURCES: DOID UMLS OMIM MESH MONDO More info about HOLOPROSENCEPHALY 7; HPE7 Too many results? We can help you with your rare disease diagnosis. [mendelian.co]

  developmental delay 0011342 Muscle weakness Muscular weakness 0001324 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Neurogenic bladder Lack of bladder control due to nervous system injury 0000011 Optic atrophy 0000648 [rarediseases.info.nih.gov]

  developmental delay　(軽度全般的発達遅滞)　[HP:0011342]　[0120] 　Muscle weakness　(筋力低下)　[HP:0001324]　[0270] 　Myopia　(近視)　[HP:0000545]　[06006] 　Neurogenic bladder　(神経因性膀胱）　[HP:0000011]　[1312] 　Optic atrophy　(視神経萎縮)　[HP:0000648]　[06522] 　Seizures　(けいれん)　[HP:0001250 [syndromefinder.ncchd.go.jp]

• Cerebellar Ataxia

  Ataxia Ectodermal Dysplasia cerebellar ataxia, mental retardation and dysequlibrium syndrome + Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Cerebellofaciodental Syndrome cerebral creatine [rgd.mcw.edu]

  Ataxia is a cerebellar phenomenon that manifests as a lack of voluntary muscle coordination, typically observed as disturbances in the gait pattern. [ncbi.nlm.nih.gov]

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].

Early diagnosis with a proper treatment plan and meticulous oral hygiene program helps eliminate the necessity of multiple tooth extractions. [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]

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]

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]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

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]

The treatment for ODDD, therefore, includes pain relief, preventing complications, and counseling the affected families. [dovemed.com]

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.