We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. [ncbi.nlm.nih.gov]

• Prognathism

  Pseudo-prognathism: an auxiliary ultrasonographic sign for transvaginal ultrasonographic diagnosis of cleft lip and palate in the early second trimester. Am J Obstet Gynecol 1991;165:1314–1316. 16. Bronshtein M, Gershoni-Baruch R. [synapse.koreamed.org]

• Short Extremities

  The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. [ncbi.nlm.nih.gov]

  The thorax is also narrow and constricted with extremely short and horizontal ribs in short rib-polydactyly syndrome, type II (Ma- jewski, OMIM 263520). [rrnursingschool.biz]

• Suggestibility

  The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity. [ncbi.nlm.nih.gov]

• Widely Spaced Nipples

  […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Showing of 57 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

• Cytoplasmic Inclusion Bodies

  Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. [ncbi.nlm.nih.gov]

  inclusion bodies "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. ( 11815874 ) This deformity resulted from a ’tandem’ change in endochondral bone formation that is, arrested orthotopic cartilage maturation [humpath.com]

Treatment Treatment Options: No effective treatment is available for this condition but surgical treatment could be considered for specific anomalies. [disorders.eyes.arizona.edu]

Treatment There is no available treatment to cure Short rib-polydactyly syndrome because the abnormal bone development during the prenatal stage is permanent and irreversible. [medigest.uk]

No causal treatment available. [neocyst.de]

These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome : occasionally characterized as [radiopaedia.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

These include: congenital cardiac anomalies congenital renal anomalies Treatment and prognosis SRPSs are lethal anomalies and management is often supportive. skeletal dysplasias lethal skeletal dysplasias Jeune syndrome : occasionally characterized as [radiopaedia.org]

Due to the poor prognosis, extreme measures to prolong life are rarely taken. Prognosis The prognosis for infants born with SRP syndromes is quite poor. These babies usually die within hours or days of birth due to underdeveloped lungs. [encyclopedia.com]

[…] retinitis pigmentosa ataxia hepatic fibrosis mental Retardation short stature manifestation neonatal frequency inheritance autosomal – recessive pathogenesis Underlying mutations lead to defects of the intraflagellar transport of primary cilia. progress and prognosis [neocyst.de]

Infants born with Short rib-polydactyly syndrome have poor prognosis, the reason why newborns with this syndrome are given minimum care to keep them warm and comfortable and no extreme measure to prolong life is carried out. [medigest.uk]

A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. [journals.lww.com]

Etiology Causative genes have been identified for the Ellis Van Creveld syndrome ( EVC and IFT80 gene; 3q25.33). Genetic counseling All of these clinically different syndromes are inherited as autosomal recessive traits. [orpha.net]

[…] fact that we know very little about basic biochemical mechanisms in the majority of the chondrodystrophic conditions, descriptive morphology is still important as it frequently leads to recognition of further cases and ultimately to information on the etiology [pediatrics.aappublications.org]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004; 424:183–190. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. [journals.lww.com]

Summary Epidemiology Prevalence as a group is unknown. [orpha.net]

Relevant External Links for IFT172 Genetic Association Database (GAD) IFT172 Human Genome Epidemiology (HuGE) Navigator IFT172 Atlas of Genetics and Cytogenetics in Oncology and Haematology: IFT172 No data available for Genatlas for IFT172 Gene Defects [genecards.org]

Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 2012; 158A:1038–1045. 4. Camera G, Mastroiacovo P. Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. [journals.lww.com]

It was obvious that, in order to discover the causes of congenital malformations and cast strategies for their prevention, it would be necessary to have knowledge of the baseline of their frequency, and that this required uniformity of definition of terms [books.google.com]

All affected infants with short-rib polydactyly syndrome have severe pulmonary hypoplasia that prevents extrauterine survival. Chromosomes are usually normal. Genes responsible for these conditions have not yet been identified. [mhmedical.com]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] Asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest [icdlist.com]

In a paper published online this week in Nature Genetics, a team of researchers led by The University of Texas at Austin’s John Wallingford reveals that these mutations prevent certain proteins from working together to smooth the way for cells to communicate [news.utexas.edu]