Edit concept Question Editor Create issue ticket

Nager Syndrome

Acrofacial Dysostosis 1 Nager Type


  • The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy.[ncbi.nlm.nih.gov]
Short Stature
  • Short stature, aplasia /hypoplasia of the radius Homozygous or compound heterozygous mutation in the RECQL4 Cornelia de Lange syndrome (OMIM# 122470) Facial defects, growth restriction and mental retardation, upper limb anomalies Defects in chromosome[gynecology-obstetrics.imedpub.com]
  • Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3].[symbiosisonlinepublishing.com]
  • stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tetralogy of Fallot 0001636 Toe syndactyly Fused toes Webbed toes[rarediseases.info.nih.gov]
  • […] exogenous causes Q87 Other specified congenital malformation syndromes affecting multiple systems Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Q87.1 Congenital malformation syndromes predominantly associated with short[icd10data.com]
  • In this report we describe the use of an elongated, superiorly based pharyngeal flap for the treatment of severe velopharyngeal insufficiency in a patient with Nager syndrome and absence of the soft palate.[ncbi.nlm.nih.gov]
  • In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.[ncbi.nlm.nih.gov]
High Pitched Voice
  • RESULTS: The most striking communication problems in this child were expressive and receptive language delay, moderately impaired speech intelligibility, the presence of phonetic and phonological disorders, resonance disorders and a high-pitched voice[ncbi.nlm.nih.gov]
  • This report features a case of the Nager syndrome occurring in a 4-year-old boy showing microdontia, thumb duplication and radioulnar synostosis, and ventricular septum defect, characteristics not usually encountered in the published cases.[ncbi.nlm.nih.gov]
Corneal Opacity
  • opacities ESCO2 gene VATER/ VACTERL associations (OMIM# 192300) Vertebral defects, anal atresia, tracheo-esophageal fistula, radial/renal dysplasias Table 2 Major differential diagnoses of Acrofacial Dysostosis Clinically, the presence of anterior upper-limb[gynecology-obstetrics.imedpub.com]
Hearing Impairment
  • He will likely have a hearing impairment because of his underdeveloped ears. The hearing impairment could also lead to speech delays. He will have trouble playing sports because of his arm motion will be limited.[myriverside.sd43.bc.ca]
  • The inner ear bones often will be poorly formed, causing hearing impairment or loss, which may or may not be correctable with surgery or a hearing aid.[houstoncraniofacial.com]
  • Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Nager syndrome have bone abnormalities in their hands and arms.[ghr.nlm.nih.gov]
  • impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper[rarediseases.info.nih.gov]
  • Nager syndrome does not affect a person’s intelligence, although speech development may be delayed due to hearing impairment.[getpdffrommiara.website]
  • One study reported ankylosis of bilateral coronoid processes, in which coronoidectomies were necessary.[ncbi.nlm.nih.gov]
  • Keywords Nager syndrome; Acrofacial dysostosis; Branchial arch; Malar and mandibular hypoplasia; Ankylosis of temporo-mandibular joint; Hypoplastic thumb; Absent radius Introduction A two-month-old male infant presented with multiple congenital anomalies[omicsonline.org]
  • Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature. J Oral Maxillofac Surg. 2012;70:616-625. INTERNET Bernier F. Nager Syndrome. Orphanet Encyclopedia, February 2013.[rarediseases.org]
  • Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature. J Oral Maxillofac Surg. 2012; 70(3): 616-625. doi: 10.1016/j.joms.2011.02.053.[symbiosisonlinepublishing.com]
Short Forearm
  • Radial defects consisted of hypoplastic thumb, short forearm, and proximal radioulnar synostosis. Patent ductus arteriosus, atrial septal defect, lower limb deformities, and uncommon flat nasal bridge were noted.[ncbi.nlm.nih.gov]
  • The patient also showed bilateral upper limb anomalies in the form of hypoplastic thumbs and short forearms with limited elbow extension.[omicsonline.org]
Absent or Hypoplastic Thumbs
  • Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones.[ncbi.nlm.nih.gov]
Extension of Elbows Limited
  • Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272[rarediseases.info.nih.gov]
Pierre Robin Syndrome
  • Doctors told Emi and Andrew that she may have Pierre Robin syndrome, where a smaller than normal lower jaw causes breathing problems. "We were so shocked and worried," says Andrew.[gosh.nhs.uk]
  • Diagnostically relevant are: Goldenhar syndrome, Pierre-Robin syndrome and Vater associations with the absence of radial and thumb aplasia in all. The diagnosis of MFDM was also suspected in the present case.[gynecology-obstetrics.imedpub.com]
  • Shah CV, Pruzansky S, Harris WS: Cardiac malformations with facial clefts; with observations on the Pierre Robin syndrome. Am J Dis Child 1970 Mar; 119(3): 238-44.[fetalultrasound.com]
  • Synonyms: Pierre Robin syndrome (PRS), Pierre Robin anomaly/anomalad, Pierre Robin malformation (PRM) complex, Robin sequence, Robin complex Related conditions - these may display features of the malformation: Stickler's syndrome, velocardiofacial syndrome[patient.info]
  • robin syndrome Robin sequence Robin syndrome Saethre chotzen syndrome Clinical Information A complex syndrome characterized mainly by aural, oral, and mandibular developmental anomalies which may vary from mild to severe and frequently involve one side[icd10data.com]
Beak Nose
  • Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay[ncbi.nlm.nih.gov]
Beaked Nose
  • Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay[ncbi.nlm.nih.gov]
Vaginal Bleeding
  • Clinical Report A 23 year old primigravid woman, first cousin with her husband from both mother and father, evaluated for vaginal bleeding at 6 weeks of gestation.[gynecology-obstetrics.imedpub.com]


  • Treatment was safe and successful in this case.[ncbi.nlm.nih.gov]
  • Management and treatment Management must focus on neonatal respiratory distress (tracheostomy) and feeding difficulties (gastrostomy).[orpha.net]
  • Treatment planning requires a craniofacial team to sequence the ear reconstruction, jaw reconstruction and soft tissue reconstruction.[rchsd.org]


  • Distinguishing this condition from similar syndromes is critical for care and prognosis.[ncbi.nlm.nih.gov]
  • Prognosis After infancy, most patients are healthy and are presumed to have a normal lifespan.[orpha.net]
  • 1 answer Nager Syndrome and depression What is Nager Syndrome Nager Syndrome synonyms Nager Syndrome prognosis Which advice would you give to someone who has just been diagnosed with Nager Syndrome? 1 answer[diseasemaps.org]


  • Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia.[ncbi.nlm.nih.gov]
  • Etiology In approximately 50% of patients, NAFD has been associated with heterozygous mutations in the SF3B4 gene (1q21.2), coding for a component of the splicing machinery.[orpha.net]
  • “These studies,” says Professor Saint-Jeannet, will identify genes important for neural crest and craniofacial development, and will provide novel insights into the etiology and pathogenesis of Nager syndrome.[nyu.edu]


  • Summary Epidemiology The prevalence is unknown; more than 100 cases of NAFD have been published.[orpha.net]
  • An inherited translocation defect has been identified in one Pierre Robin family. [ 3 ] Candidate genes and loci are under investigation. [ 4 ] Epidemiology Incidence PRS is a rare condition.[patient.info]
Sex distribution
Age distribution


  • One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis.[ncbi.nlm.nih.gov]
  • The authors would advocate early pollicization in patients with thumb anomalies to prevent any impairment in manual dexterity. * Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, SA, Australia † Team for Congenital Hand and Upper[journals.lww.com]
  • SF3B4 gene mutations that cause Nager syndrome prevent the production of functional SAP49 protein.[ghr.nlm.nih.gov]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • The most common early problem is feeding difficulties, as the cleft palate prevents enough negative pressure to feed effectively.[patient.info]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!