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Phocomelia (from Greek φoko = "seal" plus μέλος (plural μέλεα) = "limb") is a congenital disorder involving the limbs (dysmelia). An individual exhibiting phocomelia may be referred to as a phocomelus.
Presentation
It presents at birth very short or absent long bones and flipper-like appearance of hands and sometimes feet. Amphibian deformities often take the form of phocomelia, in which the limbs are shortened due to lack or malformation of long bones, as opposed to other forms of dysmelia such as amelia, which is characterized by the complete lack of a limb, or polymelia, the presence of extra limbs, which are often fused together.
Causes
The condition may be inherited or occurs sporadically. It is also connected with prenatal exposure to the anti-nausea drug thalidomide.
Notable cases
Famous phocomelic people include Stanley Berent, also known as "Sealo The Seal Boy" (who made his living from performing / being exhibited in "freak shows") and, more currently, actor Mat Fraser, opera singer Thomas Quasthoff, guitarist Rick Renstrom and artist Alison Lapper. Marc Quinn's 15-foot-high nude sculpture of Alison Lapper Pregnant is shown on the formerly-vacant fourth plinth in Trafalgar Square. Hee Ah Lee is a renowned pianist with only two fingers on each hand.
External links
| Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756) |
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| Limbs | hip: Dislocation of hip/Hip dysplasia - Upington disease
feet (Club foot, Flat feet, Pes cavus)
systemic dislocations Larsen syndrome
head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis - chest (Pectus excavatum, Pectus carinatum)
any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome
dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism
reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia)
upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome)
knee (Genu valgum, Genu varum)
other Arthrogryposis |
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| Skull and facial bones | Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis (Scaphocephaly) - Crouzon syndrome - Hypertelorism - Macrocephaly - Oxycephaly - Platybasia - Saethre-Chotzen syndrome - Treacher Collins syndrome - Trigonocephaly |
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| Spine and bony thorax | Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib |
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| Osteochondrodysplasia | developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita
- Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia |
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| Other | abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome |
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| See also non-congenital conditions (M, 710-739) |
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