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Acrootoocular Syndrome

Pseudopapilledema Ocular Hypotelorism Blepharophimosis and Hand Anomalies


Presentation

  • Abstract We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies.[unboundmedicine.com]
  • The documents contained in this web site are presented for information purposes only. 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]
  • Search for more papers by this author Abstract We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies.[onlinelibrary.wiley.com]
  • Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder American Journal of Medical Genetics 73(4): 442-446 1998 We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss,[eurekamag.com]
Short Stature
  • stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based[mousephenotype.org]
  • stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 11 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684 12 short foot 60 33 frequent (33%) Frequent (79[malacards.org]
  • stature Delayed skeletal maturation Kyphosis Gait disturbance Pain Milia Growth delay Pica Short stature Uveal melanoma Melanocytic nevus Abnormality of the eye Oropharyngeal squamous cell carcinoma Fibular hypoplasia Pancreatic adenocarcinoma Squamous[mendelian.co]
  • stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Skull congenital deformities Smith Fineman Myers syndrome Sonoda[icdlist.com]
  • STATURE, AND IMPAIRED GLUCOSE METABOLISM MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES Microcephaly-Capillary[rgd.mcw.edu]
Short Finger
  • Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly. Feet are small with a peculiar shape, wide space between toes 1 and 2 and syndactyly type 1 (see this term).[orpha.net]
  • finger 60 33 frequent (33%) Frequent (79-30%) HP:0009381 23 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413 24 short metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010049 25 abnormality of earlobe 60 33[malacards.org]
  • Hands The hands may have a characteristic shape with broad palms and with a “hockey-stick” palmar crease, short fingers and small malformed thumbs.[entokey.com]
Failure to Thrive
  • […] to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of teeth ; Kyphoscoliosis ; Low-set ears ; Micrognathia ; Narrow palate ; Numerous nevi ; Pectus excavatum ; Pseudopapilledema[mousephenotype.org]
  • […] to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508 4 hyperpigmented nevi 60 33 frequent (33%) Frequent (79-30%) HP:0007481 5 dental malocclusion 60 33 frequent (33%) Frequent (79-30%) HP:0000689 6 delayed skeletal maturation 60 33 frequent ([malacards.org]
  • Patients often experience failure to thrive and short stature; undescended testis may be seen in up to first/third of patients [ 238 ].[entokey.com]
  • […] to thrive [ ] Accessory breasts [ ] Accessory mitral valve tissue [ ] Accessory pancreas [ ] Accessory tricuspid valve tissue [ ] ACCV [ ] Aceruloplasminemia [ ] Acetazolamide-responsive congenital myotonia [ ] Acetazolamide-responsive myotonia [ ] ACFS[wikicure.wikia.com]
  • Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr 1971; 78: 95–101 PubMed Google Scholar Meyer SJ, Holstein T. Spherophakia with glaucoma and brachydactyly.[link.springer.com]
Choking
  • 30%) HP:0001245 37 abnormal finger flexion creases 60 33 frequent (33%) Frequent (79-30%) HP:0006143 38 palmar hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0010765 39 prominent calcaneus 60 33 frequent (33%) Frequent (79-30%) HP:0012428 40 choking[malacards.org]
Malocclusion
  • Classification developmental, eye, genetic Phenotypes Abnormality of abdomen morphology ; Anodontia ; Atresia of the external auditory canal ; Autosomal recessive inheritance ; Blepharophimosis ; Delayed eruption of teeth ; Delayed skeletal maturation ; Dental malocclusion[mousephenotype.org]
  • Frequent (79-30%) HP:0000369 2 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767 3 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508 4 hyperpigmented nevi 60 33 frequent (33%) Frequent (79-30%) HP:0007481 5 dental malocclusion[malacards.org]
  • Provides an up-to-date information on topics of day-to-day relevance such as epidemiology of malocclusion and orthodontic indices, psychological aspects of orthodontics, debonding, care and maintenance of occlusion after orthodontic treatment .[books.google.de]
  • .- ) cyclopia ( Q87.0 ) dentofacial anomalies [including malocclusion] ( M26.- ) malformation syndromes affecting facial appearance ( Q87.0 ) persistent thyroglossal duct ( Q89.2 ) ICD-10-CM Diagnosis Code Q18 Other congenital malformations of face and[icd10data.com]
  • D , Axial CT angiogram shows relatively symmetric micrognathia and areas of malocclusion ( arrows ). Conclusions The first and second BAs are the embryologic origin of many of the structures of the face.[ajnr.org]
High Arched Palate
  • […] pigmented nevi palmar keratosis poorly developed palmar creases Head And Neck Nose: broad nasal base Endocrine Features: partial growth hormone deficiency Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum Head And Neck Mouth: narrow palate high-arched[malacards.org]
  • Intraoral examination revealed high arched palate with narrowing of upper and lower arches, dental caries in relation to 37, 27, and 17.[indianjotol.org]
  • On intraoral examination, 16 and 47 were missing with spacing between 1112 13 14 42 43 44, proclined 1112 13 43, cross bite in relation to 24 34, increased overjet and high arched palate [Figure 1] , [Figure 2] , [Figure 3] , [Figure 4] , [Figure 5] .[jomfp.in]
  • Skeletal features include microcephaly, spinal deformities, high arched palate, pectus excavatum, absent or dysplastic clavicles (accounting for the narrow or sagging shoulders), and digital anomalies including syndactyly, duplicated thumbs and clinodactyly[disorders.eyes.arizona.edu]
  • The association with CP and a high arched palate leads to an increased incidence of serous otitis media, which may lead to conductive hearing loss. Defects of the auditory ossicles can be seen with associated congenital conductive hearing loss.[ajnr.org]
Delayed Dentition
  • dentition - hypomyelination [ ] Ataxia - diabetes - goiter - gonadal insufficiency [ ] Ataxia - hypogonadism - choroidal dystrophy [ ] Ataxia - oculomotor apraxia type 1 [ ] Ataxia - oculomotor apraxia type 2 [ ] Ataxia - pancytopenia [ ] Ataxia - photosensitivity[wikicure.wikia.com]
Epicanthal Folds
  • folds more Skeletal: delayed bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple episodes of choking (1st year of life) Clinical[malacards.org]
  • folds/AR (most common), XLR/Numerous/Multiple JUBERG-MARSIDI SYNDROME/Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy/XLR/ATRX/#309580 KRABBE DISEASE/Nystagmus, optic atrophy/AR/GALC/#245200 KEARNS-SAYRE[eyewiki.org]
  • folds AR (most common), XLR Numerous Multiple JUBERG-MARSIDI SYNDROME Ptosis, epicanthal folds, hypertelorism, upslanting palpebral fissures, exotropia, optic atrophy XLR ATRX #309580 KRABBE DISEASE Nystagmus, optic atrophy AR GALC #245200 KEARNS-SAYRE[eyewiki.aao.org]
  • Other less common ocular features are microcornea, microphthalmia, ophthalmoplegia, hypertelorism, cataracts, epicanthal folds, colobomas, and chorioretinal scars.[disorders.eyes.arizona.edu]
  • Epicanthus Inversus BPES is characterized by the presence of epicanthus inversus, where the lower lid contributes to most of the epicanthus and the epicanthal fold extends onto the lower lid below the lashes.[entokey.com]
Hearing Impairment
  • impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 11 delayed eruption of teeth 60 33 frequent (33%) Frequent[malacards.org]
  • impairment ; High palate ; Hypotelorism ; Increased number of teeth ; Kyphoscoliosis ; Low-set ears ; Micrognathia ; Narrow palate ; Numerous nevi ; Pectus excavatum ; Pseudopapilledema ; Sandal gap ; Short foot ; Short metacarpal ; Short phalanx of[mousephenotype.org]
  • Present in only 50% of all children among whom substantial hearing impairment is eventually diagnosed ...[ibis-birthdefects.org]
  • His mother had a hearing impairment from an early age, and a female cousin had a left hypoplastic optic disc, but did not have the Duane anomaly. Figure 4 (A) Left hand of patient 4. (B) Right hand of patient 4.[jmg.bmj.com]
  • Often there is bilateral hearing impairment. There is no angle between the neck and the chin. It is often associated to cleft palate. The forehead may be prominent.[pocketdentistry.com]
Low Set Ears
  • […] skeletal maturation ; Dental malocclusion ; Downslanted palpebral fissures ; Epicanthus ; Failure to thrive ; Finger syndactyly ; Growth hormone deficiency ; Hearing impairment ; High palate ; Hypotelorism ; Increased number of teeth ; Kyphoscoliosis ; Low-set[mousephenotype.org]
  • Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: 60 33 (show all 50) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:[malacards.org]
  • Additioanl findings recently described includes: ventriculomegaly, low-set ears, skeletal anomalies included (13 pairs of ribs) and premature ossification of the calcaneus and talipes. – Holoprosencephaly 2: caused by SIX3 mutations. – Septooptic dysplasia[bredagenetics.com]
  • It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.[icd10data.com]
  • set ears and ear hypoplasia.[pocketdentistry.com]
Hearing Problem
  • problems (audiologists); speech pathologists; and/or other health care professionals.[rarediseases.org]
Eruptions
  • Synonyms ACROOTOOCULAR SYNDROME , AOO SYNDROME Classification developmental, eye, genetic Phenotypes Abnormality of abdomen morphology ; Anodontia ; Atresia of the external auditory canal ; Autosomal recessive inheritance ; Blepharophimosis ; Delayed eruption[mousephenotype.org]
  • Frequent (79-30%) HP:0000252 8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 11 delayed eruption[malacards.org]
  • Often the mandibular arch, is particularly short, and presents a severe crowding and molar hypo eruption, especially on the affected side, with overeruption at the lower incisal area (Bettega, 2001).[pocketdentistry.com]
  • Dental Absent teeth, microdontia, delayed eruption, cone shaped teeth and increased spacing between teeth may be seen.[entokey.com]
Hyperkeratosis
  • […] abnormality of facial musculature 60 33 frequent (33%) Frequent (79-30%) HP:0000301 36 small thenar eminence 60 33 frequent (33%) Frequent (79-30%) HP:0001245 37 abnormal finger flexion creases 60 33 frequent (33%) Frequent (79-30%) HP:0006143 38 palmar hyperkeratosis[malacards.org]
  • Transport into Mitochondria hypermobility syndrome Hyperphosphatasia with Mental Retardation hypertelorism, microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis[rgd.mcw.edu]
  • Arteriovenous malformation of the trunk [ ] Arthritis urethritica [ ] Arthrogryposis due to muscular dystrophy [ ] Arthrogryposis - ectodermal dysplasia - other anomalies [ ] Arthrogryposis - epileptic seizures - migrational brain disorder [ ] Arthrogryposis - hyperkeratosis[wikicure.wikia.com]
Keratosis
  • […] partial syndactyly more Skin Nails Hair Skin: multiple pigmented nevi palmar keratosis poorly developed palmar creases Head And Neck Nose: broad nasal base Endocrine Features: partial growth hormone deficiency Chest Ribs Sternum Clavicles And Scapulae[malacards.org]
  • .,, Source MeSH Adolescent Adult Consanguinity Eye Face Female Genes, Recessive Growth Disorders Hearing Loss Humans Keratosis Male Nails Papilledema Syndrome Toes Pub Type(s) Case Reports Journal Article Language eng PubMed ID 9415472 Citation Bertola[unboundmedicine.com]
Palmar Keratosis
  • keratosis partial syndactyly more Skin Nails Hair Skin: multiple pigmented nevi palmar keratosis poorly developed palmar creases Head And Neck Nose: broad nasal base Endocrine Features: partial growth hormone deficiency Chest Ribs Sternum Clavicles And[malacards.org]
Palmar Keratosis
  • keratosis partial syndactyly more Skin Nails Hair Skin: multiple pigmented nevi palmar keratosis poorly developed palmar creases Head And Neck Nose: broad nasal base Endocrine Features: partial growth hormone deficiency Chest Ribs Sternum Clavicles And[malacards.org]
Papilledema
  • .,, Source MeSH Adolescent Adult Consanguinity Eye Face Female Genes, Recessive Growth Disorders Hearing Loss Humans Keratosis Male Nails Papilledema Syndrome Toes Pub Type(s) Case Reports Journal Article Language eng PubMed ID 9415472 Citation Bertola[unboundmedicine.com]
  • : Papilledema (swelling of retinal optical discs ) occurs in 29% to 64% of cases.[en.wikipedia.org]
  • MUCOPOLYSACCHARIDOSIS TYPE IH/S (HURLER-SCHEIE SYNDROME)/Corneal clouding/AR/IDUA/#607015 MUCOPOLYSACCHARIDOSIS TYPE IS (SCHEIE SYNDROME)/Corneal clouding, retinopathy, glaucoma/AR/IDUA/#607016 MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)/Retinopathy, ptosis, papilledema[eyewiki.org]
  • MUCOPOLYSACCHARIDOSIS TYPE IH/S (HURLER-SCHEIE SYNDROME) Corneal clouding AR IDUA #607015 MUCOPOLYSACCHARIDOSIS TYPE IS (SCHEIE SYNDROME) Corneal clouding, retinopathy, glaucoma AR IDUA #607016 MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME) Retinopathy, ptosis, papilledema[eyewiki.aao.org]

Workup

Delayed Bone Age
  • bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple episodes of choking (1st year of life) Clinical features from OMIM: 264475[malacards.org]
  • The most common features that have been reported include generalized obesity starting from early childhood; macrocephaly; ocular abnormalities (especially retinal or choroid coloboma); delayed bone age; and intellectual disability.[diseaseinfosearch.org]
Delayed Bone Age
  • bone age Skeletal Feet: small feet widely spaced 1st-2nd toes zygodactyly short 3rd-4th toes protruding calcaneus Growth Weight: birthweight Abdomen Gastrointestinal: multiple episodes of choking (1st year of life) Clinical features from OMIM: 264475[malacards.org]
  • The most common features that have been reported include generalized obesity starting from early childhood; macrocephaly; ocular abnormalities (especially retinal or choroid coloboma); delayed bone age; and intellectual disability.[diseaseinfosearch.org]

Treatment

  • 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]
  • A detailed step by step approach to orthodontic treatment with contemporary fixed appliances, from diagnosis to finishing .[books.google.de]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Techniques for scatter and local photocoagulation treatment of diabetic retinopathy: Early Treatment Diabetic Retinopathy Study Report no. 3. The Early Treatment Diabetic Retinopathy Study Research Group.[eophtha.com]

Prognosis

  • One can predict prognosis based on the amount of damage done initially, modified by other factors such as age, and other medical problems.[dizziness-and-balance.com]
  • The prognosis is generally good if the child survives infancy.[entokey.com]
  • Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. In particular, recurrent episodes of prolonged apneas can be life-threatening and require assisted ventilation.[ojrd.biomedcentral.com]
  • In mild cases without any systemic involvement, the prognosis is good, where jaw reconstruction surgeries can be performed and structural anomalies of the eyes and ears can be corrected by plastic surgery. [1] Declaration of patient consent The authors[indianjotol.org]
  • […] corresponding brain stem nuclei demonstrated at autopsy. [26] Brain stem involvement detected by magnetic resonance imaging in patients with Goldenhar Syndrome has been also reported; however, the stem lesions are very severe, resulting in a poor general prognosis[jomfp.in]

Etiology

  • Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthod Craniofac Res 2007;10:121-8. 29. Larsen WJ. Human Embryology. New York: Churchill Livingstone; 1993. 30.[jomfp.in]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Maternal diabetes, rubella, and influenza have also been suggested as an etiological factor. [1] The clinical features of this syndrome were incomplete development on the affected side.[indianjotol.org]
  • Potential etiologies of secondary anophthalmia include infectious, vascular, metabolic, or toxic events.[radiologykey.com]

Epidemiology

  • Summary Epidemiology Only 4 cases have been reported in the literature from 3 inbred sibships.[orpha.net]
  • 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.de]
  • The Epidemiology of Anotia and Microtia. Harris, J.[ibis-birthdefects.org]
  • […] lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz Epidemiology[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology [ edit ] CHILD syndrome is inherited in an X-linked dominant fashion and is associated with a mutation of the NSDHL gene.[en.wikipedia.org]
  • […] of Undetermined Significance (MGUS) Smoldering Multiple Myeloma (SMM) Solitary Plasmacytoma Waldenstrom s Macroglobulinemia More information Systemic Lupus Erythematosus Harvard-MIT Division of Health Sciences and Technology HST.021: Musculoskeletal Pathophysiology[docplayer.net]
  • […] mutation or deletion of the CHD7 gene, some individuals with CHARGE syndrome harbor disparate pathologic cytogenetic anomalies (including 22q11.2 deletions) or mutations in other genes (including SEMA3E ) unrelated to CHD7 . [10, 11, 12, 13, 14, 15, 16] Pathophysiology[emedicine.medscape.com]
  • Familiarity with craniofacial embryology and its associated effects on resultant anatomy also leads to a better understanding of the pathophysiologic basis of craniofacial syndromes.[ajnr.org]

Prevention

  • American Tinnitus Association American Tinnitus Association, 2007 "Good source ... " Non-profit organization dedicated to promoting the relief, prevention ...[ibis-birthdefects.org]
  • […] room 5 minutes after the infusion is over, laser of 689 nm is applied for 83 seconds (both eyes can be treated in same session) Patient is kept in dark room for 48 hours and discharged Patient advised to avoid direct sun light exposure for 15 days to prevent[eophtha.com]
  • […] reconstruction typically consists of a cleft repair, corrections of colobomas and ear deformities and removal of dermoids and preauricular tags. [31] The complex treatment is focused not only on dental care, articulation and hearing but also on the prevention[jomfp.in]
  • According to many authors early surgery is indicated to prevent maxillary deformities, which are believed to be secondary to a primary mandibular deformity (Mulliken and Kaban 1987; Kaban,1998).[pocketdentistry.com]

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