Atelosteogenesis, Type I (AO1)

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OMIM® 57 108720 OMIM Phenotypic Series 57 PS108720 MeSH 44 D010009 MESH via Orphanet 45 C535396 ICD10 via Orphanet 33 Q78.8

UMLS via Orphanet 71 C0265283 Orphanet 58 ORPHA1190 MedGen 41 C0265283 SNOMED-CT via HPO 68 108367008 111266001 125617002 18265008 194021007 204878001 22006008 237364002 246803005 249310005 249671009 249808002 253101008 253883006 263681008 276506001 276507005 282020008 32958008 367004 367494004 397932003 417558002 43476002 48777005 49550006 55999004 63567004 64217002 6477005 75547007 80825009 86203003 87642003 87979003 90145001 93255008 95427009 95494009 95515009 more UMLS 70 C0265283

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1190 Definition A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Epidemiology Atelosteogenesis I (AOI) is a very rare infrequently described disorder. Clinical description Affected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and if born alive have cardiorespiratory failure. Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. Etiology Atelosteogenesis I results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B ( FLNB ) located to 3p14. Diagnostic methods Diagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings comprise severe platyspondyly, distally tapered; shortened, incomplete or absent humeri and femurs; shortened or bowed radii, ulnas, and tibias; hypoplastic pelvis and fibulas; and deficient ossification of the metacarpals, middle and proximal phalanges. Differential diagnosis Differential diagnosis comprises other skeletal dysplasias with severe short-limbed dwarfism such as campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib- polydactyly syndrome, and thanatophoric dysplasia. Other, differential diagnosis includes achondrogenesis, hypophosphatasia, and osteogenesis imperfecta. Antenatal diagnosis Prenatal ultrasound can detect bone dysplasia and other manifestation and plays an important role in early detection and diagnosis. Prenatal ultrasound findings for AOI may include severe limb shortening and deficient ossification of the long bones, shortened flaring or absent humeri and femurs from 18 weeks onwards. Other skeletal abnormalities as well as some facial dysmorphic features may be detectable. Genetic counseling All cases have been autosomal dominant and sporadic resulting from de novo mutations in FLNB. Management and treatment Palliative care is offered to newborns suffering from AOI. Prognosis Prognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life.

MalaCards based summary : Atelosteogenesis, Type I, also known as giant cell chondrodysplasia, is related to infantile apnea and atelosteogenesis. An important gene associated with Atelosteogenesis, Type I is FLNB (Filamin B). Affiliated tissues include colon and bone, and related phenotypes are talipes equinovarus and brachydactyly

MedlinePlus Genetics : ⁴³ Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

OMIM® : ⁵⁷ Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). (108720) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² Atelosteogenesis 1: A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.

Wikipedia : ⁷³ Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and... more...

Clinical features from OMIM®:

108720 (Updated 20-May-2021)

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