Atelosteogenesis type III

A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(61.3%)		 1442028
 Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year.
Kuwashima S, Nishimura G, Kikushima H, Tanaka G, Furukawa T, Fujioka M.
Acta Paediatr Jpn. 1992;34(5):543-6.
Micrognathia Broad thumb
Apnea Cleft Palate Dwarfism Homo sapiens Intellectual Disability Male Syndrome
2
(21.2%)		 27258362
 Atelosteogenesis type III: orthopedic management.
Sarikaya IA, Gorgun B, Erdal OA.
J Pediatr Orthop B. 2017;26(6):546-551.
Skeletal dysplasia
FLNB
Child, Preschool Females Filamins Gait Homo sapiens Mutation Osteochondrodysplasias Ultrasonography, Prenatal
2
(21.2%)		 10076882
 Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.
Schultz C, Langer LO, Laxova R, Pauli RM.
Am J Med Genet. 1999;83(1):28-42.
Skeletal dysplasia
SON
Adult Bone and Bones Child, Preschool Differential Diagnosis Dwarfism Females Genes, Dominant Homo sapiens Male Survivors Syndrome Trachea
2
(21.2%)		 2368807
 Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.
Stern HJ, Graham JM Jr, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL.
Am J Med Genet. 1990;36(2):183-95.
Skeletal dysplasia
Bone and Bones Congenital Foot Deformity Dwarfism Females Fibula Homo sapiens Infant Infant, Newborn Male Syndrome
5
(4.0%)		 8008496
 Atelosteogenesis type III: a case report.
Fallon MJ, Hockey A, Hallam LA.
Pediatr Radiol. 1994;24(1):47-9.
Intellectual disability
Bone Diseases, Developmental Dwarfism Females Homo sapiens Infant, Newborn Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0001248 Short tubular bones of the hand Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002827 Hip dislocation Frequent (79-30%)
HP:0002999 Patellar dislocation Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0003063 Abnormality of the humerus Frequent (79-30%)
HP:0003417 Coronal cleft vertebrae Frequent (79-30%)
HP:0004976 Knee dislocation Frequent (79-30%)
HP:0006408 Distal tapering femur Frequent (79-30%)
HP:0008417 Vertebral hypoplasia Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001188 Hand clenching Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0002990 Fibular aplasia Occasional (29-5%)
HP:0003049 Ulnar deviation of the wrist Occasional (29-5%)
HP:0003862 Absent humerus Occasional (29-5%)
HP:0003902 Epiphyseal stippling of the humerus Occasional (29-5%)
HP:0003974 Absent radius Occasional (29-5%)
HP:0005257 Thoracic hypoplasia Occasional (29-5%)
HP:0005619 Thoracolumbar kyphosis Occasional (29-5%)
HP:0005736 Short tibia Occasional (29-5%)
HP:0005905 Abnormal cervical curvature Occasional (29-5%)
HP:0006384 Club-shaped distal femur Occasional (29-5%)
HP:0008755 Laryngotracheomalacia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 3


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FLNB filamin B 2317