• Thumbnail for Cleidocranial dysostosis
    from the Greek κρανίο meaning skull, and dysostosis meaning formation of abnormal bone. Cleidocranial dysostosis is a general skeletal condition so named...
    19 KB (1,682 words) - 01:27, 24 June 2024
  • A dysostosis is a disorder of the development of bone, in particular affecting ossification. Examples include craniofacial dysostosis, Klippel–Feil syndrome...
    2 KB (103 words) - 03:45, 12 July 2023
  • and spondylocostal dysostosis. The disease is related to the SRRT gene. As of 2017[update] about 20 cases of Spondylocostal dysostosis have been reported...
    16 KB (1,232 words) - 09:42, 18 March 2024
  • Thumbnail for Nager acrofacial dysostosis
    Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment...
    6 KB (548 words) - 15:29, 26 November 2023
  • Thumbnail for Franceschetti–Klein syndrome
    equated with Treacher Collins syndrome. Dysostosis FRANCESCHETTI A, KLEIN D (1949). "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol...
    3 KB (149 words) - 01:54, 9 June 2024
  • Thumbnail for Crouzon syndrome
    disorder. First called "craniofacial dysostosis" ("craniofacial" refers to the skull and face, and "dysostosis" refers to malformation of bone), the...
    12 KB (1,266 words) - 15:14, 30 March 2024
  • Thumbnail for Micrognathism
    syndrome Achard syndrome Acrofacial dysostosis Cincinnati type Acrofacial dysostosis Rodriguez type Acrofacial dysostosis, Catania type Acromegaloid facial...
    14 KB (1,343 words) - 23:07, 26 April 2024
  • Thumbnail for Mandibulofacial dysostosis-microcephaly syndrome
    Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft...
    10 KB (898 words) - 10:46, 18 April 2024
  • Thumbnail for Acrofrontofacionasal dysostosis
    with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly‐syndactyly: Acro‐fronto‐facio‐nasal dysostosis syndrome". American...
    4 KB (292 words) - 03:16, 26 February 2024
  • Thumbnail for Treacher Collins syndrome
    condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis is used to describe the clinical features. In July...
    44 KB (4,747 words) - 08:57, 7 March 2024
  • Thumbnail for Craniofacial dysostosis-diaphyseal hyperplasia syndrome
    Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying...
    4 KB (230 words) - 04:47, 23 April 2023
  • Along with her sister and mother, Shapiro was born with cleidocranial dysostosis. Culwell-Block, Logan (2018-03-24). "The 13 Youngest Actors Who Made Tony...
    5 KB (302 words) - 17:38, 19 April 2024
  • Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is a very rare genetic disorder which is characterized by dysplasia of the...
    1 KB (118 words) - 13:21, 7 May 2023
  • Thumbnail for Frontonasal dysplasia
    Acromelic frontonasal dysostosis is caused by a heterozygous mutation in the ZSWIM6 gene. It is thought that acromelic frontonasal dysostosis occurs due to an...
    27 KB (3,457 words) - 16:32, 5 January 2024
  • dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia...
    15 KB (1,486 words) - 20:52, 7 December 2023
  • Thumbnail for LFNG
    defect associated with Lfng mutations is spondylocostal dysostosis. Spondylocostal dysostosis is characterized by segmentation problems in the developing...
    11 KB (1,366 words) - 17:15, 20 April 2024
  • Thumbnail for Usher syndrome
    Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome...
    35 KB (3,585 words) - 14:26, 28 June 2024
  • Thumbnail for Acrocraniofacial dysostosis
    Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms...
    4 KB (268 words) - 21:30, 25 February 2024
  • Thumbnail for Hemifacial microsomia
    branchial arch syndrome Oral-mandibular-auricular syndrome Otomandibular dysostosis Craniofacial microsomia Condylar hypoplasia Goldenhar syndrome Parry–Romberg...
    7 KB (818 words) - 23:23, 21 April 2023
  • Thumbnail for Clavicle
    collarbones are sometimes partly or completely absent in cleidocranial dysostosis. The levator claviculae muscle, present in 2–3% of people, originates...
    17 KB (1,989 words) - 15:46, 17 May 2024
  • Thumbnail for Miller syndrome
    Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens...
    7 KB (702 words) - 10:42, 23 May 2024
  • Thumbnail for DLL3
    Spondylocostal Dysostosis, Autosomal Recessive Turnpenny PD, Bulman MP, Frayling TM, et al. (1999). "A gene for autosomal recessive spondylocostal dysostosis maps...
    7 KB (879 words) - 23:24, 26 February 2024
  • Angel-shaped phalango-epiphyseal dysplasia, also known as peripheral dysostosis, is a rare type of osteochondrodysplasia which is characterized by angel-shaped...
    6 KB (489 words) - 22:18, 25 July 2022
  • Thumbnail for Hanhart syndrome
    diagnosis of Hanhart syndrome must rule out Nager syndrome and acro-facial dysostosis, Johnson Hall Krous syndrome, and Goldenhar syndrome. These syndromes...
    16 KB (1,487 words) - 16:26, 1 February 2024
  • Thumbnail for Brachycephaly
    with or without hormone resistance Acrofrontofacionasal dysostosis Acromelic frontonasal dysostosis Acyl-CoA oxidase deficiency Adenylosuccinate lyase deficiency...
    14 KB (1,403 words) - 01:56, 7 June 2024
  • Dysosteosclerosis Dysostosis acral with facial and genital abnormalities Dysostosis peripheral Dysostosis Stanescu type Dysostosis Dyspareunia Dysphasic...
    13 KB (1,155 words) - 22:52, 28 April 2024
  • type of enzyme inadequacy and glycoprotein accumulated. Cleidocranial dysostosis is a general skeletal condition named for the collarbone (cleido-) and...
    28 KB (2,858 words) - 11:02, 3 July 2024
  • Auggie was born with a rare medical facial deformity, mandibulofacial dysostosis. He has been homeschooled by Isabel, but as he approaches fifth grade...
    34 KB (2,958 words) - 13:40, 30 June 2024
  • Thumbnail for Coxa vara
    conditions (e.g. fibrous dysplasia). Coxa vara can happen in cleidocranial dysostosis. In early skeletal development, a common physis serves the greater trochanter...
    5 KB (645 words) - 19:36, 18 June 2023
  • scoliosis Acrofacial dysostosis Acrofacial dysostosis ambiguous genitalia Acrofacial dysostosis atypical postaxial Acrofacial dysostosis Catania form Acrofacial...
    23 KB (1,929 words) - 03:48, 26 April 2024