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- Disease Information
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Disease Information for Acro-Facial dysostosis/Nager type
- 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
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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
- 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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