Disease Information for Acro-Facial dysostosis/Nager type

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facial hemihypertrophy
Flat cheeks deformity/congenital
Feeding/swallowing difficulties/infant
Receding chin deformity
Absent index finger/congenital
Claw hand deformity/sign
Delayed speech/language development
Laryngeal dystonia
Mental Deficiency Child
Absent thumbs deformity
Hypoplastic thumb deformity
Limitation motion/elbow
Short forearm deformity
Delayed speech development/impediment
Snoring
Absent lower eyelashes
Downward sloping eyes/Antimongoloid slant
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Absent/hypoplastic radius bones
Xray/Renal displacement/KUB/IVP
Associated Diseases & Rule outs
Associated Disease & Complications
Acrofacial dysostosis/Nager type
Blind external ear canals/microtia deformity
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Coloboma
Deafness
Deafness, congenital
Ear deformities/congenital
Facial dysplasia
Hemihypertrophy
Laryngeal hypoplasia
Limb deformities/anomalies
Lobster claw deformity/split hand syndrome
Malar/dysplasia
Mandible hypoplasia/Retrognathia
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Radioulnar synostosis
Radio-ulnar synostosis anomaly
Renal anomalies
Renal anomaly/aplasia/hypoplasia
Respiratory neonatal distress syndrome
Syndactyly/Webbing
Tetralogy of Fallot
Uterus Didelphus/Bicornuate
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene locus Chromosome 2q
Pathophysiology/Osteolysis
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Postaxial limb deficiency/phocomelia
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Dysostoses, Dysostosis, Dysostosis (disorder), Synonym/Mandibulofacial dysostosis with limb malformations, Synonym/Nager Acrofacial dysostosis, Synonym/Nager syndrome/AFD, Synonym/Nager-De Reynier (Acrofacial dysos) variant, Synonym/Preaxial Acrofacial Dysostosis, Synonym/Preaxial mandibulofacial dysostosis, Synonym/Split hand deformity-Mandibular dysostosis
Definition

Nager Syndrome; AFD; Acrofacial Dysostosis, Nager Type; Nager Acrofacial Dysostosis Syndrome; Split Hand Deformity-Mandibulofacial Dysostosis; Nager Syndrome is a rare disorder that may or may not be genetically derived; Major symptoms may include underdevelopment of the cheek and jaw area of the face; Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with related hearing problems and cleft palate may also occur; There may be underdevelopment or absence of the thumb, shortened forearms and poor movement in the elbow; Breathing and feeding problems may be present in infants with this syndrome-------- [NORD]-----------------

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External Links Related to Acro-Facial dysostosis/Nager type
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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