Disease Information for Miller syndrome/Acrofacial dysostosis

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Dermatoglyphic anomalies
Genital Hypoplasia/Male
Penis, small (Micropenis)
Conical teeth
Receding chin deformity
Congenital absent fingers/toes
Intelligence normal
Seizures
Short forearm deformity
Snoring
Downward sloping eyes/Antimongoloid slant
Sparse eyelashes
Anomalous ears/deformities
Cup shaped ears
Prominent Ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Diagnostic Test Results
X-RAY
Xray/Distal ulna/radius deformity
Xray/Radius acrolysis
Associated Diseases & Rule outs
Associated Disease & Complications
Acrofacial dysostosis/Miller syndrome
Atrial septal defect
Atrial septal defect (ostium primum)
Atrioventricula canal/Endocardial cushion defect
Blind external ear canals/microtia deformity
Choanal atresia
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Coloboma
Coloboma eyelids
Congenital heart disease
Congenital urinary tract malformations
Congenitally absent rib
Cryptorchidism
Deafness
Deafness, conduction type
Ear deformities/congenital
Ectropion, eyelid
Gut Anomalies
Intestine malrotation
Malar/dysplasia
Micrognathia/congenital small chin
Patent ductus arteriosis
Radio-ulnar synostosis anomaly
Renal anomalies
Renal anomaly/aplasia/hypoplasia
Rib anomalies/Hypoplastic/deformed
Supernumerary vertebrae
Syndactyly/Webbing
Ventricular septal defect
Volvulus
Genital Hypoplasia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Faces-cranio online database (ex)
Pathophysiology
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Miller syndrome Acrofacial dysostosis, Synonym/Genee-Weidemann Syndrome, Synonym/Postaxial acrofacial dysostosis (POADS) syndrome, Synonym/Wildervanck-Smith syndrome
Definition

Miller Syndrome; POADS; Disorder Subdivisions ; Acrofacial Dysostosis, Postaxial Type; Acrofacial Dysostosis, Type Genee-Wiedep; Genee-Wiedemann Syndrome; Postaxial Acrofacial Dysostosis; Miller Syndrome, also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder that is apparent at birth (congenital); The disorder is characterized by distinctive craniofacial malformations occurring in association with abnormalities of the outer aspects of the forearms and lower legs (postaxial limb deficiency); Craniofacial malformations may include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue from (colobomas) and/or drooping of the lower eyelids, exposing the conjunctivae, the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (ectropion); In infants and children with Miller Syndrome, limb abnormalities may include incomplete development (hypoplasia), webbing (syndactyly), and/or absence of certain fingers and/or toes (eg, the fifth digits and, in some cases, the fourth and third digits) and/or underdevelopment (hypoplasia) of the bones on the "pinky" side (ulna) and, in some cases, the thumb side of the forearms (radius), causing the forearms to appear unusually short; Additional physical abnormalities may be present in some cases; Miller Syndrome is thought to be inherited as an autosomal recessive genetic trait; [NORD]

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External Links Related to Miller syndrome/Acrofacial dysostosis
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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