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]

• Multiple Congenital Anomalies

  Two sibs who died shortly after birth had multiple congenital anomalies that included hydrops, narrow thorax, short limbs, and absence of polydactyly; therefore short rib (polydactyly) syndrome Beemer-Langer type was suggested. [ncbi.nlm.nih.gov]

  Yang SS, Roth JA, Langer LO Jr: Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. Am J Med Genet 39:243–246, 1991. CrossRef PubMed Google Scholar Copyright information [link.springer.com]

• Collapse

  […] ears [ more ] 0000377 Ambiguous genitalia Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ] 0000062 Anencephaly 0002323 Ascites Accumulation of fluid in the abdomen 0001541 Atelectasis Partial or complete collapse [rarediseases.info.nih.gov]

• Sepsis

  At 4 months of age, she died of pulmonary hypoplasia and sepsis. SNP microarray and evaluation tool confirmed WDR34 as the candidate gene. WES detected an AR mutation at c.554C > T [p.Arg182Trp] in WDR34. [ncbi.nlm.nih.gov]

• Respiratory Distress

  Another condition with some of the same features leading to respiratory distress is asphyxiating thoracic dysplasia 1 ( 208500 ), or Jeune syndrome. [disorders.eyes.arizona.edu]

  Refusing termination the mother delivered a male foetus at 30 weeks with severe respiratory distress and gross anomalies. The foetus succumbed to respiratory failure inspite of resuscitation. [sciencedomain.org]

  Renal-Hepatic-Pancreatic Dysgenesis: Clinical Characteristics Potter Patient Survival Clinical presentation sequence Other abnormalities 1 35 min Respiratory distress + None 2 1 day Respiratory distress + Complete situs syndrome syndrome inversus, dilated [docslide.com.br]

  The neonate had respiratory distress since birth and died after 5 hrs. A clinical diagnosis of short-rib polydactyly syndrome was made. The skeletal skiagram revealed short ribs, small pelvis, short tubular bones (Fig. 2 ). [indianpediatrics.net]

  Depending on the degree of the lung volume reduction, subtle abnormalities of the respiratory function or fatal respiratory distress may result. [rrnursingschool.biz]

• 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]

• 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 Neck

  […] finger Stubby finger Stubby fingers [ more ] 0009381 Short foot Short feet Small feet [ more ] 0001773 Short long bone Long bone shortening 0003026 Short neck Decreased length of neck 0000470 Short palm 0004279 Short ribs 0000773 Short thorax Shorter [rarediseases.info.nih.gov]

  Also note handlebar clavicular configuration short neck, coarse facies, and protuberant abdomen. [rrnursingschool.biz]

• Frontal Bossing

  Severe micromelia, flat vertebral bodies, narrow/short thorax, frontal bossing, cloverleaf skull, protuberant abdomen, hypertolerism, etc. [quizlet.com]

  Facial Profile Assess frontal bossing, nasal bridge depression, and micrognathia. Assess for cleft lip and palate. [obimages.net]

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]

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]

[…] 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]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]