delay Short rib – polydactyly, thorax deformity, rhizomelia Childhood mortality from renal disease Short rib may have neonatal lethality [arupconsult.com]

FGFR3 chondrodysplasia group This includes the following conditions: Achondroplasia Thanatophoric dysplasia types 1 and 2 Hypochondroplasia Severe achondroplasia with developmental delay and acanthosis nigricans Camptodactyly, tall stature, and hearing [emedicine.medscape.com]

Some affected individuals have additional features that may include sensorineural hearing loss, developmental delay, brachydactyly, and coned epiphyses in the hands and feet. [basicmedicalkey.com]

Polythelia forms part of the X-linked Simpson–Golabi–Behmel syndrome and another syndrome additionally including aplasia cutis congenita, microcephaly and developmental delay with apparent autosomal dominant inheritance. [plasticsurgerykey.com]

delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism NEB Nemaline myopathy PIEZO2 Distal arthrogryposis, Marden-Walker syndrome PLOD2 Bruck syndrome, Osteogenesis imperfecta type 3 PMM2 Congenital disorder of glycosylation RAPSN Myasthenic [genda.com.ar]

Many involve joint pain caused by abnormal bone alignment, or from nerve compression. Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. [dict.eudic.net]

Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

In this case, recurrent purulent discharge and preauricular abscesses causing oedema, erythema and pain may develop. [plasticsurgerykey.com]

The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‏ الصفحة 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS. [books.google.com]

Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgical procedures. The only simple interventions that increase perceived adult height are dress enhancements, such as shoe lifts or hairstyle. [dict.eudic.net]

Rossi's three full-time employees, featured in the series, are all little people and aspiring actors. [dict.eudic.net]

Fine-needle aspiration may serve as a useful tool for diagnosis. Complete excision of ectopic breast tissue is recommended because of the risk of malignant transformation [1]. [plasticsurgerykey.com]

In this case, recurrent purulent discharge and preauricular abscesses causing oedema, erythema and pain may develop. [plasticsurgerykey.com]

atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy ACP5 Spondyloenchondrodysplasia [genda.com.ar]

atrophy, congenital TRPV4 Spinal muscular atrophy, distal (DSMA) BSCL2 del, TRPV4 Spinal muscular atrophy, distal, X-linked (SMAX) ATP7A del dup Splenic hypoplasia NKX2-5 Split-hand/foot malformation (SHFM) TP63 ( p63), WNT10B Spondylism, congenital [uniklinik-freiburg.de]

Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. Reduced thoracic size can restrict lung growth and reduce pulmonary function. [dict.eudic.net]

Disproportionate dwarfism is characterized by one or more body parts being unusually large or small compared to the rest of the body. [dict.eudic.net]

Autosomal dominant inheritance is suggested. Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. [jmg.bmj.com]

Loss of the 21 amino acids encoded by exons 8 and 9 is suggested to cause aberrant expression of FGFR2b [ 62 ]. [basicmedicalkey.com]

Functional studies suggest that these FGFR mutations are activating. Three major mechanisms of activation have been described. The first results in increased affinity for fibroblast growth factors (FGFs), the FGFR ligands. [ommbid.mhmedical.com]

Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem. Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs. [dict.eudic.net]

Phenotype / cell stem origin The same t(6;8)(q27;p12) is found both in the bone marrow and in the lymph node: the multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell. [atlasgeneticsoncology.org]

Dickson, David // Nature;7/29/1993, Vol. 364 Issue 6436, p372 Reports on the denial by the Pasteur Institute in Paris of alleged malpractice over the deaths from Creutzfeldt-Jakob disease of several children treated for dwarfism. [connection.ebscohost.com]

The most effective means of increasing adult height by several inches is distraction osteogenesis, though availability is limited and the cost is high in terms of money, discomfort, and disruption of life. [dict.eudic.net]