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Differential Diagnosis for Craniofacial Abnormalities/Congenital
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Abnormalities Craniofacial, Abnormality Craniofacial, Birth disorder, CHAPTER 4 CONGENITAL DISEASES, CONGENITAL DIS, Congenital disease, Congenital disease (disorder), CONGENITAL DISEASES, Congenital disorder, Congenital Disorders, CRANIOFACIAL ABNORM, Craniofacial Abnormalities, craniofacial abnormality, craniofacial anomaly, DIS CONGENITAL, Disorder birth, Disorder Congenital, Disorders Congenital
Suggest a Missing Condition/DiseaseAvailable only to registered users.
181 possible diagnoses found.
Infectious Disorders (Specific Agent)
Metabolic, Storage Disorders
- Neonatal hyperbilirubinemia
- Mucopolysaccharidoses
- Hurler's mucopolysaccharidosis syndrome
- Adenyl succinate lysate deficiency
- Aspartylglycosaminuria
- Fucosidosis (Anderson-Fabry)
- Gangliosidosis, generalized (GM1)
- Hunter's mucopolysaccharidosis syndrome
- Morquio's mucopolysaccharidosis synd.
- Pseudo-Hurler polydystrophy (mucol'd 3)
Deficiency Disorders
Congenital, Developmental Disorders
- Congenital disorders
- Down's Syndrome
- CHARGE Congenital syndrome
- Hydrocephalus, obstructive
- Cleft palate/palate incompetence
- Cretinism, goitrous sporadic
- Hydrocephalus, communicating
- Brachycephaly
- Congenital proptosis
- Craniosynostosis
- Cretinism
- Cri du Chat/Chromosome 5p (5p15.2)
- Dwarf
- Microcephaly/oligophrenia
- Multiple lentigenes syndrome (congenit)
- Thymic aplasia, congenital (DiGeorges)
- Trisomy-21 partial translocation
- Turner syndrome/Gonadal dysgenesis
- Allan-Herndon Mental Retardation/X-linked
- Kenny-Caffey syndrome/KCS (1q42-q43)
- Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
- Dandy-Walker anomaly/syndrome
- Happy puppet syndrome/Angelman syndrome
- Mulibrey Nanism syndrome
- Achondrogenesis
- Achondroplasia
- Acrocephalopolysyndactyly (Pfeiffer I)
- Alagille/Arteriohepatic dysplasia syndr
- Anencephaly/congenital syndrome
- Bloom syndrome
- Cerebral gigantism of childhood (Sotos)
- Chondroectodermal dysp.(Ellis-Van Crev)
- Chromosome ,long arm 21 deletion
- Chromosome 4p-syndrome
- Chromosome XXXXX Syndrome
- Chromosome XXXXY Syndrome
- Chromosome, long-arm 18 deletion synd
- Chromosome, ring D syndrome
- Congenital facial diplegia (Moebius)
- Corpus callosum agenesis
- Craniocarpotarsal Dystrophy (Freeman Sheldon)
- Craniofacial dysostosis/Crouzon
- De Lange syndrome
- Dubowitz syndrome
- Dysostosis, orofacial-digital
- Dysplasia, craniometaphyseal
- Dysplasia, spondyloepiphyseal/DMC disease
- Goldenhar syndrome
- Hallermann-Streiff-Francois syndrome
- Hemihypertrophy/congenital
- Jansen's metaphyseal chondrodysplasia (unco)
- King Syndrome
- Marshall syndrome
- Microphthalmos, colobomatous
- Miller-Dieker syndrome
- Mohr syndrome
- Noonan syndrome
- Oculodentodigital dysplasia syndrome
- Pallister Killian Mosaic Syndrome
- Pierre Robin syndrome
- Prader-Willi syndrome
- Roaf's syndrome
- Robinow dwarfing syndrome/mesomelic dys
- Rubinstein-Taybi syndrome
- Shawl scrotum syndrome
- Silver-Russell syndrome
- Smith Magenis syndrome
- Sturge-Weber disease
- Trichorhinophalangeal congenital synd
- Trisomy 13 syndrome
- Trisomy 20 syndrome
- Trisomy-18 syndrome
- Trisomy-8 syndrome
- Trisomy-9 syndrome
- Turner mosaic syndrome
- Velocardiofacial (22q gene) syndrome
- 5q syndrome (5q31.1)
- Acro-Facial dysostosis/Nager type
- Bowen Conradi/Bowen Hutterite Syndrome
- Carpenter Syndrome
- CODAS Syndrome
- Coffin-Lowry Syndrome
- Curry-Jones Syndrome
- Hydrocephalus
- Kaufman/VATER Syndrome
- Metatropic dwarfism (Kneist Dysplasia)
- Miller syndrome/Acrofacial dysostosis
- Porteous Syndrome
- Weaver syndrome (Marshall-Smith)
Hereditary, Familial, Genetic Disorders
- Ataxia-telangiectasia
- Basal cell nevus syndrome (Gorlin)
- Cleidocranial digital dysostosis
- Fragile X syndrome/X-linked retardation
- Nephritis, hereditary (Alports)
- Neurofibromatosis
- Osteogenesis imperfecta
- Pseudo-pseudohypoparathyroidism
- Chromosome 22q13.3 deletion syndrome (22q13.3)
- Jackson-Weiss Craniosynostosis syndrome
- Jarcho-Levin Spondylocostal dysplasia Syndrome
- Johanson Blizzard genetic syndrome (unco)
- Juberg Marsidi Genetic syndrome (unco)
- Myhre Syndrome
- Neonatal Progeria Familial (Wiedemann)
- Pitt syndrome (4p16.3)
- Pallister Hall Syndrome
- Pallister W Syndrome
- Pseudohypoparathyroidism
- Acrocephalosyndactyly type III syndrome
- Apert syndrome
- Bird-headed dwarf of Seckel
- Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
- Cockayne syndrome
- Cryptophthalmos (Fraser) syndrome
- Dolichospondylic dysplasia
- Facial ectodermal dysplasia (Setleis)
- Facioscapulohumeral muscular dystrophy
- Hypothalamic hypogonadism, Kallman's
- Leprechaunism
- Lipodystrophy, generalized
- Myotonia atrophica (Steinert's disease)
- Oculocerebrorenal dystrophy/Lowe syndrome
- Osteodysplasia, familial (Melnick Needles)
- Schwartz-Jampel syndrome
- Scott's Craniodigital syndrome
- SHORT syndrome (Rieger anomaly plus)
- Simpson dysmorphia syndrome
- Smith-Lemli-Opitz syndrome
- Stickler syndrome
- Treacher Collins syndrome
- Waardenburg-Klein syndrome
- Williams syndrome/Elfin facies
- Winchester syndrome
- 18p chromosome deletion complex
- Abducted thumbs syndrome
- Acrocallosal syndrome (ACS)
- Adducted thumbs-Mental retardation syndrome
- Brooks syndrome
- Chromosome 20 deletion/Ring syndrome
- Chudley Syndrome 1
- Craniofrontonasal Syndrome (CFNS)
- Curran acrorenal syndrome
- Faciocardiorenal Syndrome (Eastman-Bixler)
- Kabuki make-up syndrome
- Michelin tire baby syndrome
- Neu Laxova Syndrome
- Neuhauser Syndrome
- Orocraniodigital (Juberg-Hayward) Syndrome
- Say Syndrome 1
Usage, Degenerative, Necrosis, Age Related Disorders
Vegetative, Autonomic, Endocrine Disorders
Reference to Organ System
Heirarchical Major Groups
Drugs
Poisoning (Specific Agent)
External Links Related to Craniofacial Abnormalities/Congenital
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