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Ectromelia

More information in Books or onNLM PubMed
Definition: Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, and phocomelia.  abnorm of arm or leg: see Dorland for definition & inclusions; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES    Other names Sirenomelia; Phocomelia; Hemimelia; Amelia
 
SubstanceCAS Registry & nameCategoriesSource
Mermaid syndrome  0   *Ectromelia *Lower Extremity Deformities, Congenital.
Madokoro Ohdo Sonoda syndrome  0   *Ectodermal Dysplasia *Ectromelia Nasolacrimal Duct/abnormalities.
Yim Ebbin syndrome  0   *Abnormalities, Multiple *Cleft Lip *Coloboma *Cleft Palate *Ectromelia *Hydrocephalus.
Tetraamelia multiple malformations  0   *Abnormalities, Multiple *Ectromelia. Eur J Pediatr. 1985;144(4):412-4
Tetra-amelia with pulmonary hypoplasia  0   *Abnormalities, Multiple *Ectromelia *Lung Diseases.
Tetra-amelia autosomal recessive  0   *Ectromelia.
X-linked tetra-amelia  0   *Ectromelia *Genetic Diseases, X-Linked.
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities  0   *Ectromelia Developmental Disabilities Face/abnormalities.
Johnson Munson syndrome  0   *Ectromelia *Foot Deformities, Congenital *Hand Deformities, Congenital Spine/abnormalities.
Rudd Klimek syndrome  0   *Ectromelia Cauda Equina/abnormalities.
Selig Benacerraf Greene syndrome  0   *Ectromelia *Kidney Diseases *Urethral Obstruction Urinary Bladder/abnormalities Kidney/abnormalities.
Laurin-Sandrow syndrome  0   *Abnormalities, Multiple *Ectromelia *Foot Deformities, Congenital *Hand Deformities, Congenital Nose/abnormalities.
Roberts Syndrome  0   *Ectromelia *Hypertelorism *Craniofacial Abnormalities.
Richieri Costa Da Silva syndrome  0   *Ectromelia.
Al Awadi syndrome  0   *Amenorrhea *Ectromelia Pelvic Bones/abnormalities Uterus/abnormalities.
Absence of Tibia  0   *Bone Diseases, Developmental Ectromelia Tibia/abnormalities.

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