Differential Diagnosis for Presentation/Multiple deformities newborn (odd look)
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anomaly face, CONGENITAL ANOMALIES OF THE FACE, Congenital anomaly of face, Congenital anomaly of face (disorder), Congenital deformities (skull) and/or (face) and/or (jaw), Congenital deformity of face, Congenital deformity of face (disorder), congenital facial anomaly, congenital facial defect, deformity face congenital, face anomaly, Face congenital deformities, FACE DEFECT CONGENITAL, face deformity congenital, FACE MALFORMATION, Facial dysmorphism, Facial malformation, Multiple deformities newborn (odd look), Presentation, Skull face and jaw congenital deformities
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176 possible diagnoses found. Too many? Narrow results
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)
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
- Thymic aplasia, congenital (DiGeorges)
- Trisomy-21 partial translocation
- Turner's syndrome/Gonadal dysgenesis
- Kenny-Caffey syndrome/KCS (1q42-q43)
- Shprintzen-Goldberg craniosynostosis syndrome (15q21.1)
- 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
- Turners 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
Hereditary, Familial, Genetic Disorders
- Ataxia-telangiectasia
- Basal cell nevus syndrome (Gorlin)
- Cleidocranial digital dysostosis
- Fragile X syndrome/X-linked retardation
- Marfan's syndrome
- 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 synd
- Osteodysplasia, familial (Melnick Needles)
- Schwartz-Jampel syndrome
- Scott's Craniodigital syndrome
- SHORT syndrome (Rieger anomaly plus)
- Simpson dysmorphia syndrome
- Smith-Lemli-Opitz syndrome
- Stickler's 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
- Chudley Syndrome 1
- Craniofrontonasal Syndrome (CFNS)
- Curran acrorenal syndrome
- Faciocardiorenal Syndrome (Eastman-Bixler)
- Kabuki make-up syndrome
- Loeys-Dietz Syndrome
- Michelin tire baby syndrome
- Neu Laxova Syndrome
- Neuhauser 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)
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