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]

• Low Set Ears

  We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and [ncbi.nlm.nih.gov]

  ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Median cleft lip and palate Central cleft lip and palate Midline cleft lip/palate [ more ] 0008501 Narrow chest Low [rarediseases.info.nih.gov]

  set ears, hypo/microdontia, abnormal nails and hair, and a high incidence of development of renal symptoms [ 23 ]. [ciliajournal.biomedcentral.com]

• Short Extremities

  Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome type II, Majewski type. [ncbi.nlm.nih.gov]

  All are perinatally lethal disorders and are characterized by very short extremities, small thorax, large head, Fig. 2.2. Asphyxiating thoracic dysplasia in a male newborn. Note elongated, narrow thorax, with short ribs and wide anterior ends. [rrnursingschool.biz]

• Hypoplastic Nails

  The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly. The karyotype was 46,XX. [ncbi.nlm.nih.gov]

• 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]

• 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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

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]

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]

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]

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]