Axial mesodermal dysplasia spectrum

Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.



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Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(43.2%)		 18049085
 Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum.
Al Kaissi A, Grill F, Alexander K, Varga F, Klaushofer K.
Clin Dysmorphol. 2008;17(1):65-8.
Vertebral fusion Hypoplastic sacrum
Females Homo sapiens Magnetic Resonance Imaging Mesoderm Osteochondrodysplasias
2
(39.0%)		 22439114
(3307243)
 Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.
Manjila S, Miller EA, Vadera S, Goel RK, Khan FR, Crowe C, Geertman RT.
Surg Neurol Int. 2012;3:23.
Encephalocele
3
(30.6%)		 8465843
 Axial mesodermal dysplasia spectrum.
Stewart FJ, Nevin NC, Brown S.
Am J Med Genet. 1993;45(4):426-9.
Bilateral talipes equinovarus Lumbar hemivertebrae
Adult Anus, Imperforate Congenital Dysplasia Of The Hip Females Homo sapiens Infant, Newborn Kidney Male Mesoderm Radiography, Thoracic
4
(22.8%)		 8775416
 Severe axial mesodermal dysplasia spectrum in an infant of a diabetic mother.
Depraetere M, Dehauwere R, Marien P, Fryns JP.
Genet Couns. 1995;6(4):303-7.
Neurogenic bladder Bilateral talipes equinovarus
Adult Bone Diseases, Developmental Females Femur Homo sapiens Infant Infant, Newborn Mesoderm Pelvic Bones Pregnancy Pregnancy in Diabetics
5
(4.0%)		 17676608
 Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes.
Dinleyici EC, Tekin N, Dinleyici M, Kilic Z, Adapinar B, Aksit MA.
Am J Med Genet A. 2007;143A(18):2156-9.
Diabetes mellitus
Congenital Heart Defects Diabetes Mellitus, Insulin-Dependent Fatal Outcome Females Homo sapiens Infant, Newborn Pregnancy Pregnancy in Diabetics
5
(4.0%)		 15127759
 Axial mesodermal dysplasia sequence: autopsy findings.
Merchant SN, Naimi TS, Khan A, Nadol JB Jr, Holmes LB.
Clin Dysmorphol. 2004;13(1):21-4.
Atresia of the external auditory canal
Adult Autopsy Bone Diseases, Developmental Bone and Bones Females Homo sapiens Mesoderm Phenotype Pregnancy
5
(4.0%)		 14981721
 Human disorganization complex, as a polytopic blastogenesis defect: a new case.
Delgado Luengo WN, Luisa Hernandez Rodriguez M, Valbuena Pirela I, Gonzalez Ferrer S, Estrada Corona P, Chacon Fonseca I, Delgado Luengo J, Morales-Machin A, Borjas Fuentes L, Caridad Martinez Basalo M, Chacin J.
Am J Med Genet A. 2004;125A(2):181-5.
Rectovaginal fistula
Females Homo sapiens Infant, Newborn Lymphocyte Activation Morphogenesis Syndrome
5
(4.0%)		 9132501
 Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.
Chen CP, Shih SL, Liu FF, Jan SW.
J Med Genet. 1997;34(3):252-5.
Diabetes mellitus
Cleft Palate Craniofacial Abnormalities Ectromelia Females Fetal Death Holoprosencephaly Homo sapiens Spina Bifida
5
(4.0%)		 1621765
 Craniorachischisis totalis and sirenomelia.
Rodriguez JI, Palacios J.
Am J Med Genet. 1992;43(4):732-6.
Anencephaly
Adult Anencephaly Ectromelia Females Homo sapiens Infant, Newborn Male Pregnancy
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000008 Abnormality of female internal genitalia Very frequent (99-80%)
HP:0000069 Abnormality of the ureter Very frequent (99-80%)
HP:0000078 Abnormality of the genital system Very frequent (99-80%)
HP:0000079 Abnormality of the urinary system Very frequent (99-80%)
HP:0000107 Renal cyst Very frequent (99-80%)
HP:0000212 Gingival overgrowth Very frequent (99-80%)
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000384 Preauricular skin tag Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000776 Congenital diaphragmatic hernia Very frequent (99-80%)
HP:0000921 Missing ribs Very frequent (99-80%)
HP:0000924 Abnormality of the skeletal system Very frequent (99-80%)
HP:0001140 Limbal dermoid Very frequent (99-80%)
HP:0001392 Abnormality of the liver Very frequent (99-80%)
HP:0001539 Omphalocele Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0001743 Abnormality of the spleen Very frequent (99-80%)
HP:0002020 Gastroesophageal reflux Very frequent (99-80%)
HP:0002023 Anal atresia Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002242 Abnormal intestine morphology Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002815 Abnormality of the knee Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003422 Vertebral segmentation defect Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0012718 Morphological abnormality of the gastrointestinal tract Very frequent (99-80%)
HP:0012732 Anorectal anomaly Very frequent (99-80%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000707 Abnormality of the nervous system Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002575 Tracheoesophageal fistula Frequent (79-30%)
HP:0100542 Abnormal localization of kidney Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0004557 Anterior vertebral fusion 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID