Microcephalic osteodysplastic primordial dwarfism types I and III

Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 9800907
 Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N.
Am J Med Genet. 1998;80(1):16-24.
Micrognathia Prominent nose
Dwarfism Females Homo sapiens Infant, Newborn Male Microcephaly Osteochondrodysplasias
2
(39.0%)		 27591150
 Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).
Kroigard AB, Frost M, Larsen MJ, Ousager LB, Frederiksen AL.
Bone. 2016;92:145-149.
Microcephaly
RNU4ATAC
Bone Density Dwarfism Females Fetal Growth Retardation Homo sapiens Male Microcephaly Middle Aged Mutation Osteochondrodysplasias Small Nuclear RNA Spliceosomes Young Adult
2
(39.0%)		 18486828
 Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
Galasso C, Lo-Castro A, Lalli C, Cerminara C, Curatolo P.
Pediatr Neurol. 2008;38(6):435-8.
Microcephaly
Brain Electroencephalography Homo sapiens Magnetic Resonance Imaging Male Microcephaly Neuropsychological Tests Socialization
2
(39.0%)		 11009306
 Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.
Vichi GF, Currarino G, Wasserman RL, Duvina PL, Filippi L.
Pediatr Radiol. 2000;30(9):644-52.
Microcephaly
Age Factors Bone and Bones Child, Preschool Dwarfism Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Syndrome X-Ray Computed Tomography
2
(39.0%)		 6721654
 [Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)].
Lavollay B, Faure C, Filipe G, Branca G, Huet de Barochez Y.
Arch Fr Pediatr. 1984;41(1):57-60.
Microcephaly
Bone Diseases, Developmental Dwarfism Homo sapiens Infant, Newborn Male Microcephaly Syndrome
6
(4.0%)		 22302400
 The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.
Pierce MJ, Morse RP.
Am J Med Genet A. 2012;158A(3):606-10.
Intrauterine growth retardation
Dwarfism Females Fetal Growth Retardation Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Microcephaly Osteochondrodysplasias Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 74

HPO ID Term Frequency
HP:0000072 Hydroureter Very frequent (99-80%)
HP:0000077 Abnormality of the kidney Very frequent (99-80%)
HP:0000079 Abnormality of the urinary system Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000269 Prominent occiput Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000501 Glaucoma Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0000924 Abnormality of the skeletal system Very frequent (99-80%)
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001006 Hypotrichosis Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001167 Abnormality of finger Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001596 Alopecia Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002063 Rigidity Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002121 Absence seizure Very frequent (99-80%)
HP:0002133 Status epilepticus Very frequent (99-80%)
HP:0002748 Rickets Very frequent (99-80%)
HP:0002749 Osteomalacia Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002878 Respiratory failure Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003172 Abnormality of the pubic bone Very frequent (99-80%)
HP:0003189 Long nose Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0003552 Muscle stiffness Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005108 Abnormality of the intervertebral disk Very frequent (99-80%)
HP:0005613 Aplasia/hypoplasia of the femur Very frequent (99-80%)
HP:0006660 Aplastic clavicle Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0008818 Large iliac wings Very frequent (99-80%)
HP:0009832 Abnormal distal phalanx morphology of finger Very frequent (99-80%)
HP:0009836 Broad distal phalanx of finger Very frequent (99-80%)
HP:0010443 Bifid femur Very frequent (99-80%)
HP:0010935 Abnormality of the upper urinary tract Very frequent (99-80%)
HP:0011097 Epileptic spasms Very frequent (99-80%)
HP:0011457 Loss of eyelashes Very frequent (99-80%)
HP:0045074 Thin eyebrow Very frequent (99-80%)
HP:0100530 Abnormal calcium-phosphate regulating hormone level Very frequent (99-80%)
HP:0100569 Abnormally ossified vertebrae Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000176 Submucous cleft hard palate Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000474 Thickened nuchal skin fold Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0009912 Abnormality of the tragus Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0002652 Skeletal dysplasia 1
HP:0008897 Postnatal growth retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 100151683