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Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

Syndromic Microphthalmia Type 4


  • Arthritis is usually a polyarticular synovitis and tenosynovitis and is commonly present (95 %). Camptodactyly with synovial cysts are also be present.[entokey.com]
  • Cataracts may be present. Nystagmus may be present secondary to impaired vision.[ncbi.nlm.nih.gov]
  • Telephone: 851-5313 e-mail: wkc15@columbia.edu SUMMARY A congenital malformation is an anatomical or structural abnormality present at birth.[docplayer.net]
  • These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms.[mendelian.co]
  • […] pellucidum Episcleritis Hypoplasia of the bladder Intestinal obstruction Syndactyly Finger syndactyly Craniosynostosis Carcinoma Joint stiffness Sporadic Abdominal pain Proptosis Headache Progressive Constipation Fever Cerebral cortical hemiatrophy Splenomegaly[mendelian.co]
Recurrent Respiratory Infections
  • respiratory infections Hand polydactyly Coarctation of aorta Sleep disturbance Vesicoureteral reflux Short foot Joint hypermobility Bulbous nose Broad hallux Autistic behavior Abnormal cardiac septum morphology Deeply set eye Prominent nipples Muscular[mendelian.co]
Broad Thumb
  • thumb Toe syndactyly Hip dislocation Low-set, posteriorly rotated ears Polydactyly Hydrocephalus Growth delay Sandal gap Horseshoe kidney Single transverse palmar crease Ectopia pupillae Cleft lip Retinal coloboma Anteverted nares Short palpebral fissure[mendelian.co]
  • Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, Stapes ankylosis with broad thumb and toes, Next Generation Sequencing of 6 gene panel: FGF9, FLNB, GDF5, HOXA11, NOG, TTR.[pentacorelab.hu]
Flexion Contracture
  • contracture Coloboma Deep philtrum Chorioretinal coloboma Hypospadias Relative macrocephaly Bilateral sensorineural hearing impairment Short upper lip Dolichocephaly Corneal opacity Highly arched eyebrow Osteopathia striata Colpocephaly Talipes valgus[mendelian.co]
  • Musculoskeletal abnormalities seen in Type III WS are usually abnormalities of upper extremities, flexion contractures, and syndactyly. Hirschsprung disease seen in Type IV WS and is due to mutations in EDN3 and EDNRB genes [ 66 ].[entokey.com]
Joint Stiffness
  • stiffness Sporadic Abdominal pain Proptosis Headache Progressive Constipation Fever Cerebral cortical hemiatrophy Splenomegaly Infantile onset Pain Depressed nasal bridge Low-set ears Hypertelorism Unilateral chest hypoplasia Ichthyosis follicularis[mendelian.co]
Dry Hair
  • Short 2nd toe Butterfly vertebrae Hyperkeratosis with erythema Vertebral wedging Hemiatrophy Patchy alopecia Scarring alopecia of scalp Hypogonadotrophic hypogonadism Abnormality of hair texture Punctate vertebral calcifications Abnormal dermatoglyphics Dry[mendelian.co]
Skin Ulcer
  • ulcer Facial erythema Status epilepticus Sloping forehead Full cheeks Thick vermilion border Panniculitis Melanonychia Abnormality of the thorax Hip dysplasia Coarse hair Abnormality of pelvic girdle bone morphology Joint dislocation Rhizomelia Dandy-Walker[mendelian.co]
Subcutaneous Nodule
  • nodule Skeletal dysplasia Intellectual disability, moderate Sparse hair Postnatal growth retardation Malar flattening Clinodactyly of the 5th finger Abnormality of the skeletal system Short palm Milia Hydronephrosis Macrotia Talipes Corneal opacity Hypoplasia[mendelian.co]
Broad Nasal Bridge
  • nasal bridge, a long upper lip, an abnormally small lower jaw (hypoplastic mandible), and/or unusually large and/or “cup-shaped” ears.[rarediseases.org]
  • Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).[mendelian.co]
Small Face
  • face Severe failure to thrive Agitation Reduced subcutaneous adipose tissue Truncal obesity Pterygium Esodeviation Delayed cranial suture closure Broad finger Blue sclerae Finger clinodactyly Patent foramen ovale Sandal gap Acanthosis nigricans Accelerated[mendelian.co]
Round Face
  • face Gliosis Abnormality of skin pigmentation Long face Lipoma Somatic mutation Abnormality of the neck Spinal canal stenosis Abnormality of finger Meningioma Spinal cord compression Abnormality of the wrist Exostoses Macroorchidism Capillary hemangioma[mendelian.co]
Mental Deterioration
  • deterioration Absent speech Abnormal heart morphology Recurrent respiratory infections Hand polydactyly Coarctation of aorta Sleep disturbance Vesicoureteral reflux Short foot Joint hypermobility Bulbous nose Broad hallux Autistic behavior Abnormal cardiac[mendelian.co]
Hand Tremor
  • tremor Hypoplasia of the fovea Rigidity High forehead Abnormality of the hair Fibular hypoplasia Short tibia Abnormality of the lower limb Large earlobe Oligodactyly Abnormal eyebrow morphology Carpal synostosis Postaxial foot polydactyly Abnormal renal[mendelian.co]
Poor Coordination
  • In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and[rarediseases.org]
Abnormal Gait
  • Other neurologic findings described include microcephaly, abnormal gait, and spasticity. Neurodegeneration is thought to be due to abnormal myelin development.[entokey.com]
Nasal Speech
  • speech Aspiration Stereotypy Anorexia Periorbital fullness Precocious puberty Abnormality of the cardiovascular system Broad finger Craniosynostosis Hyperhidrosis Screwdriver-shaped incisors Supernumerary maxillary incisor Posterior Y-sutural cataract[mendelian.co]


  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Treatment varies on a case-by-case basis, and is typically focused on treating the underlying issue that is causing the defect. Symptoms are also treated, for example ataxia can be managed through physical therapy.[diseaseinfosearch.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment depends on the manifestations of disease.[entokey.com]
  • Treatment for hearing loss and sleep disorders is dependent on the specific defect and similar to the general population.[ncbi.nlm.nih.gov]


  • PMID: 21419309 Prognosis Pace R, Giuliani V, Pagavino G J Endod 2011 Apr;37(4):558-61. doi: 10.1016/j.joen.2010.12.015.[ncbi.nlm.nih.gov]
  • Predictors of poor prognosis include cataracts noted at birth or within the first 3 years of life, microphthalmia or iris hypoplasia [ 73 ].[entokey.com]


  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan[ncbi.nlm.nih.gov]
  • The etiology of corneal pathology may be multifactorial. Di Iorio reported 23 patients with EEC of which 61 % had limbal stem cell deficiency that likely led to progressive keratopathy and dense vascularized corneal pannus [ 38 ].[entokey.com]


  • Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical cardiac disease - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology Albinism can affect people of all ethnic backgrounds. Approximately one in 17,000 people have albinism [Table 8.1 ] [ 2 ].[entokey.com]
Sex distribution
Age distribution


  • Prevention of Secondary Complications No special preventative care is recommended. Follow-up care is personalized based on the physical impairments found in the individual.[ncbi.nlm.nih.gov]
  • Local excision of trichilemmomas are often adequate with careful scrutiny of surgical margins to prevent benign recurrence [ 13 ].[entokey.com]
  • Extra genetic material from the X chromosome interferes with male sexual development, preventing the testicles from functioning normally, males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two[wikivisually.com]

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