Autosomal recessive spondylocostal dysostosis

A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.



Input patient's signs and symptoms


Narrow down the case reports



Total: 55 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(54.9%)		 2315226
 Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components.
Wells TR, Falk RE, Senac MO, Vachon L.
Pediatr Pathol. 1990;10(1-2):117-31.
Short upper lip Syndactyly
Acrocephalosyndactylia Chest Homo sapiens Infant, Newborn Male Syndrome
2
(49.9%)		 27739421
(5067110)
 Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation.
Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP.
Am J Case Rep. 2016;17:745-748.
Short neck Increased arm span
Diaphragmatic Hernia Females Hernia Homo sapiens Infant, Newborn Spleen Splenic Diseases Whole Body Imaging
3
(39.0%)		 7808366
 [Jarcho-Levin syndrome. Description of a clinical case with familial 14;21 translocation].
Sellitto F, Dello Iacono I, Falato ME, Parente C, Quarantiello F, Varricchio E.
Minerva Pediatr. 1994;46(10):451-7.
Brachycephaly
Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 21 Differential Diagnosis Homo sapiens Male Syndrome
4
(37.2%)		 29164846
 Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn.
Kaya C, Cebeci H.
Bol Asoc Med P R. 2016;108(2):17-20.
Short neck
Anesthetics Diaphragmatic Hernia Females Homo sapiens Hydrocephalus Infant, Newborn Meningomyelocele Neural Tube Defects
4
(37.2%)		 23599829
(3624657)
 A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.
Cirstoiu M, Munteanu O, Bodean O, Cirstoiu C.
J Med Life. 2013;6(1):93-6.
Short neck
Adult Congenital Heart Defects Diaphragmatic Hernia Females Fetal Diseases Fibroid Tumor Homo sapiens Male Perinatal Care Pregnancy Ultrasonography, Prenatal
4
(37.2%)		 22185858
 [Jarcho-Levin syndrome associated with maternal hypothyroidism].
Guerrero-Gonzalez M, Fernandez del Campo-Chenqe M, Ortiz-Trejo JM.
Rev Med Inst Mex Seguro Soc. 2011;49(5):541-6.
Short neck
Congenital Heart Defects Diaphragmatic Hernia Fatal Outcome Females Homo sapiens Hypothyroidism Infant, Newborn Pregnancy Pregnancy Complications
4
(37.2%)		 18629769
 Jarcho-Levin syndrome presenting with diaphragmatic hernia.
Onay OS, Kinik ST, Otgun Y, Arda IS, Varan B.
Eur J Pediatr Surg. 2008;18(4):272-4.
Short neck
Diaphragmatic Hernia Females Foramen Ovale, Patent Homo sapiens Infant Lung Syndrome
4
(37.2%)		 15851003
 Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review.
Vazquez-Lopez ME, Lopez-Conde MI, Somoza-Rubio C, Perez-Pacin R, Morales-Redondo R, Gonzalez-Gay MA.
Joint Bone Spine. 2005;72(3):275-7.
Short neck
Females Homo sapiens Infant, Newborn Respiratory Insufficiency Syndrome
4
(37.2%)		 9373850
 Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings.
Lawson ME, Share J, Benacerraf B, Krauss CM.
J Perinatol. 1997;17(5):407-9.
Short neck
Adult Child Females Follow-Up Studies Genetic Counseling Homo sapiens Infant Male Pregnancy Respiratory Insufficiency Syndrome Ultrasonography, Prenatal
4
(37.2%)		 9327269
 Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations.
Aslan Y, Erduran E, Mocan H, Yildiran A, Okten A, Gedik Y.
Genet Couns. 1997;8(3):241-8.
Short neck
Breast Females Homo sapiens Infant Infant, Newborn Male
        

Phenotype(s) retrieved from Orphanet

    Total: 38

HPO ID Term Frequency
HP:0000470 Short neck Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000902 Rib fusion Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002650 Scoliosis 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:0005108 Abnormality of the intervertebral disk Very frequent (99-80%)
HP:0006655 Rib segmentation abnormalities Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0000008 Abnormality of female internal genitalia Occasional (29-5%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000069 Abnormality of the ureter Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000269 Prominent occiput Occasional (29-5%)
HP:0000337 Broad forehead Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000368 Low-set, posteriorly rotated ears Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0002435 Meningocele Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0010772 Anomalous pulmonary venous return Occasional (29-5%)
HP:0100490 Camptodactyly of finger Occasional (29-5%)
HP:0100589 Urogenital fistula Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 27

HPO ID Term # of case reports
HP:0000470 Short neck 7
HP:0000076 Vesicoureteral reflux 2
HP:0002089 Pulmonary hypoplasia 2
HP:0002093 Respiratory insufficiency 2
HP:0002414 Spina bifida 2
HP:0002751 Kyphoscoliosis 2
HP:0002878 Respiratory failure 2
HP:0000821 Hypothyroidism 1
HP:0000853 Goiter 1
HP:0000939 Osteoporosis 1
HP:0002143 Abnormality of the spinal cord 1
HP:0002308 Arnold-Chiari malformation 1
HP:0002323 Anencephaly 1
HP:0002617 Dilatation 1
HP:0002650 Scoliosis 1
HP:0002808 Kyphosis 1
HP:0003316 Butterfly vertebrae 1
HP:0003422 Vertebral segmentation defect 1
HP:0004322 Short stature 1
HP:0006644 Thoracic dysplasia 1
HP:0006882 Severe hydrocephalus 1
HP:0008443 Spinal deformities 1
HP:0009792 Teratoma 1
HP:0010306 Short thorax 1
HP:0010773 Partial anomalous pulmonary venous return 1
HP:0012771 Increased arm span 1
HP:0100790 Hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 5

Gene Symbol Gene Name Entrez Gene ID
DLL3 delta like canonical Notch ligand 3 10683
MESP2 mesoderm posterior bHLH transcription factor 2 145873
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 3955
HES7 hes family bHLH transcription factor 7 84667
RIPPLY2 ripply transcriptional repressor 2 134701