Peripheral dysostosis

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.



Input patient's signs and symptoms


Narrow down the case reports



Total: 15 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(64.9%)		 23933701
 Acrodysostosis associated with hypercalcemia.
Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F.
Hormones (Athens). 2013;12(2):309-11.
Triangular mouth Short metacarpal
PTH
Ataxia Differential Diagnosis Dysostoses Homo sapiens Hypercalcemia Intellectual Disability Male Osteochondrodysplasias Pseudohypoparathyroidism
2
(55.9%)		 8267010
 Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A.
Am J Med Genet. 1993;47(5):765-71.
Hypodontia Brachydactyly Cone-shaped epiphysis
PROCR
Adult Bone Diseases, Developmental Child Females Fingers Genes, Dominant Genetic Markers Homo sapiens Male Middle Aged
3
(48.2%)		 4088909
 [Peripheral dysostosis, hypoplasia of the nose, low stature. Description of a case].
Sangermani R, Posani L, Pedrazzini A, Vergnaghi D.
Pediatr Med Chir. 1985;7(1):147-9.
Short stature Small hand
Body Height Child, Preschool Dysostoses Females Growth Disorders Homo sapiens Nose Pituitary Diseases Syndrome Thyroid Diseases
4
(35.3%)		 23033274
 Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, , Parboosingh JS, Innes AM.
Hum Mutat. 2013;34(1):97-102.
Brachydactyly
PDE4D PRKAR1A
rs397515433 rs774486077
Adult Amino Acid Sequence Child Child, Preschool Cyclic Nucleotide Phosphodiesterases, Type 3 Cyclic Nucleotide Phosphodiesterases, Type 4 DNA Mutational Analysis Dysostoses Females Genetic Predisposition to Disease Homo sapiens Intellectual Disability Male Missense Mutation Models, Molecular Osteochondrodysplasias Tertiary Protein Structure
4
(35.3%)		 2722579
 [Acrodysostosis: an autosomal inherited form of peripheral dysostosis].
Becker S, Mausolf A, Laszig R.
HNO. 1989;37(4):165-8.
Brachydactyly
Chromosome Aberrations Craniofacial Dysostosis Dysostoses Foot Genes, Dominant Hand Homo sapiens Male Nose Tracheal Stenosis
6
(32.2%)		 16141486
 Acrodysostosis: autosomal dominant transmission.
Sheela SR, Perti A, Thomas G.
Indian Pediatr. 2005;42(8):822-6.
Cone-shaped epiphysis
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Dysostoses Genes, Dominant Homo sapiens Hyperplasia Intellectual Disability Male Syndrome
6
(32.2%)		 9039990
 Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.
Wilson LC, Oude Luttikhuis ME, Baraitser M, Kingston HM, Trembath RC.
J Med Genet. 1997;34(2):133-6.
Cone-shaped epiphysis
GNAS
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Dysostoses Erythrocyte Membrane Females GTP-Binding Protein alpha Subunits, Gs Homo sapiens Male Mutation
6
(32.2%)		 7384726
 [Tricho-rhino-phalangeal syndrome. Four family cases].
Cottin S, Le Gall G, Lorgeas JM.
Rev Rhum Mal Osteoartic. 1980;47(3):169-73.
Epiphyseal dysplasia
Adult Congenital Dysplasia Of The Hip Females Fingers Hair Homo sapiens Male Nose Osteochondritis Syndrome
6
(32.2%)		 3339057
 Acrodysostosis and protrusio acetabuli. An association.
Macnicol MF, Makris D.
J Bone Joint Surg Br. 1988;70(1):38-9.
Epiphyseal dysplasia
Child Dysostoses Females Fingers Hip Joint Homo sapiens Toes
10
(26.3%)		 7205902
 A family with diaphyseal aclasis and peripheral dysostosis.
Brooks AP, Wynne-Davies R.
J Med Genet. 1980;17(4):277-80.
Short stature Flat face
Adult Bone Diseases, Developmental Camurati-Engelmann Syndrome Females Genes, Dominant Homo sapiens Male Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002758 Osteoarthritis Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0010579 Cone-shaped epiphysis 3
HP:0000112 Nephropathy 1
HP:0001156 Brachydactyly 1
HP:0002656 Epiphyseal dysplasia 1
HP:0002777 Tracheal stenosis 1
HP:0004322 Short stature 1
HP:0008070 Sparse hair 1
HP:0010049 Short metacarpal 1
HP:0012368 Flat face 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID