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Mohr Syndrome

Mohr's Syndrome

Mohr syndrome, one of the numerous forms of oro-facial-digital syndrome (OFDS), is a rare autosomal recessive disorder characterized by specific anomalies of the oral cavity, face, and digits. The diagnosis is clinical and hence a thorough physical exam is essential.


Mohr syndrome is the second of at least nine distinct subtypes of oro-facial-digital syndrome (OFDS). Also referred to as type II OFDS, Mohr syndrome is a rare autosomal recessive disorder [1] which is characterized by a cluster of congenital anomalies. It features oral deformities such as a cleft or high-arched palate, cleft lip, tongue nodules, and absent teeth. Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip [2]. Furthermore, the digital abnormalities include pre- and post-axial polydactyly of the hands and feet, partial bilateral duplication of the hallux, syndactyly, clinodactyly, polydactyly, and brachydactyly [2]. Moreover, there is a duplication of the first metatarsal, cuneiform, and cuboid bones [3]. Other skeletal features may include pectus excavatum and scoliosis.

Patients with Mohr syndrome also exhibit systemic manifestations such as conductive deafness [3] [4] and possible developmental complications including laryngeal hypoplasia and tracheal stenosis [5]. Additionally, affected individuals are at risk for cardiac malformations such as endocardial cushion and atrioventricular canal [6] [7]. There are also case reports describing cerebellar atrophy and other changes in patients with this form of OFDS [8].

Intelligence is typically normal in patients with Mohr syndrome.

Physical exam

It is important to conduct a thorough exam and to note the specific physical findings described above. Diagnosing Mohr syndrome and differentiating it from the other variants of OFDS is challenging since many share overlapping features.

Short Stature
  • stature, bypoplasia of the epiglottis, absent/abnormal central incisors, broad/bifid nasal tip may be allelic to OFD1 OFD IX includes retinal abnormalities and nonmedian cleft lip reported in three males Autosomal dominant polycystic kidney disease ([en.wikibooks.org]
  • OFD4: Autosomal recessive has tibial involvement, polydactyly, pectus excavatum and short stature. OFD5: Autosomal recessive includes polydactyly and median cleft lip only.[japi.org]
  • stature • Inheritance: autosomal recessive Oral-facial-digital syndrome X (aka, Figuera syndrome) ( Figuera et al 1993 ) • Distinguishing feature: fibular aplasia • Inheritance: autosomal recessive Oral-facial-digital syndrome XI (aka, Gabrielli syndrome[medlink.com]
  • […] 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]
  • stature, Variable intellectual disability [ 3, 32 ] OFD V Autosomal recessive Gingival frenulae (rare) Midline cleft lip Postaxial polydactyly Postaxial polydactyly – – – – – [ 3 ] OFD VI Autosomal recessive Gingival frenulae Lingual hamartomas Lobulated[ciliajournal.biomedcentral.com]
Dysmorphic Face
  • Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com]
Multiple Congenital Anomalies
  • congenital anomaly syndrome ( Smith-Lemli-Opitz syndrome type 2) orofaciodigital syndromes Varadi-Papp syndrome (OFDS6) syndromal preaxial poydactyly Mohr syndrome Majewski type of short rib Towne syndrome Varadi-Papp syndrome acrocephalopolydactyly[humpath.com]
Recurrent Infection
  • If the CGS includes the Bruton agammaglobulinemia tyrosine kinase ( BTK ) gene, recurrent infections secondary to this X-linked agammaglobulinemia (XLA; see this term) are present.[rarediseases.info.nih.gov]
  • Frequent fever, tachypnea and recurrent respiratory infections were observed in later days. The child had many typical and common features of Mohr syndrome along with few uncommonly reported features.[ijcasereportsandimages.com]
  • Child also had some unusual features like the presence of systolic murmur, suggestive of congenital heart disease, tachypnea [2] and recurrent respiratory infections.[ijcasereportsandimages.com]
  • […] oral-facial-digital II: report of two cases. ( 4527225 ) Goldstein E....Medina J.L. 1974 19 Mohr syndrome with subclinical expression of the bifid great toe. ( 4414705 ) Levy E.P....Fraser F.C. 1974 20 Syndrome characterized by lingual malformation, polydactyly, tachypnea[malacards.org]
Respiratory Disorders
  • Mohr. [4] Typically in the Mohr syndrome, the hands show postaxial polydactyly and the feet show preaxial polydactyly which are seen in the proband. [5] Along with that, the proband also showed the tachypnea and respiratory disorders as explained by Gustavson[ijcasereportsandimages.com]
  • Utrecht, The Netherlands. 5 Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht, The Netherlands. 6 Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands. 7 Department of Nephrology and Hypertension[ncbi.nlm.nih.gov]
Systolic Murmur
  • Child also had some unusual features like the presence of systolic murmur, suggestive of congenital heart disease, tachypnea [2] and recurrent respiratory infections.[ijcasereportsandimages.com]
  • Digitised copy available UGC155/3/3/22 CT, Catalase UGC155/3/3/23 Cardiomyopathy Digitised copy available UGC155/3/3/24 DA, Diaphysial aclasis (or multiple exostosis) UGC155/3/3/25 DE, Deafness UGC155/3/3/26 DG, Dermatoglyphic syndromes UGC155/3/3/27 DH, Dermatitis[wellcomelibrary.org]
Ectopia Lentis
  • lentis Digitised copy available UGC155/3/3/57 LI, Lipoma draft pedigree chart UGC155/3/3/58 LS, Laustia pedigrees UGC155/3/3/59 MA, Marfan's Syndrome Digitised copy available UGC155/3/3/60 MD, Muscular dystrophy UGC155/3/3/61 MI, Milroy's Disease Digitised[wellcomelibrary.org]
Short Hands
  • hands with clinodactyly of fifth finger, syndactly, post axial polydactyly of hands, preaxial polysyndactyly of feet and duplication of thumb and hallux)[2].[journalofpediatriccriticalcare.com]
  • 3/68 NV, Nevoid basal cell carcinoma Digitised copy available UGC155/3/3/69 NY, Nystagmus UGC155/3/3/70 OA, Optic atrophy Digitised copy available UGC155/3/3/71 OI, Osteogenesis imperfecta Digitised copy available UGC155/3/3/72 OP, Oculo-pharyngeal myopathy[wellcomelibrary.org]
  • Clinically he had marked hypotonia, convulsions and apneic episodes. He died shortly after birth. His brother, Patient 2, had OFD features with conductive hearing loss and normal psychomental development.[ncbi.nlm.nih.gov]
Unstable Gait
  • The combination of deafness and blindness severely affects communication, while the ongoing movement disorder results in an increasingly unstable gait.[rarediseases.info.nih.gov]


Every newborn must be examined completely from head-to-toe, which is a key component of the neonatal assessment, The presence of any anomaly should prompt the clinician to look for other abnormalities. Patients presenting with oral, facial and digital malformations should raise suspicion for OFDS, which is a clinical diagnosis. Hence the workup consists of the patient and family history and a detailed physical exam. Furthermore, investigation of other possible manifestations may be undertaken in order to ascertain the full clinical picture.


Patients with OFDS are evaluated with a skeletal survey to determine which digits and bones are involved and to add clarity regarding the present deformities [9]. Moreover, other recommended studies include magnetic resonance imaging (MRI) of the brain, audiometric assessment, an ophthalmologic evaluation, and abdominal ultrasound [3]. OFDS patients with heart murmurs warrant cardiac evaluation with echocardiography [9]. Laryngoscopy may be indicated as well [9]. Since Mohr syndrome also affects dentition, a panoramic x-ray is required [10].


Routine widespread use of prenatal ultrasonography allows for the detection of fetal defects, which consequentially leads to genetic counseling [11] and the appropriate assessment.

  • UGC155/3/3/37 GA, Galactosaemia Digitised copy available UGC155/3/3/38 GB, 'Jobbins' antigen Digitised copy available UGC155/3/3/39 GE, Ge antigen Digitised copy available UGC155/3/3/40 GI, Giant WBC Digitised copy available UGC155/3/3/41 GL, Renal glycosuria[wellcomelibrary.org]


  • Management and treatment Treatment of MTS is symptomatic and evolves over time. Hearing aids are used with variable success.[rarediseases.info.nih.gov]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Treatment is based on the symptoms present in the patient. [3] The brachydactyly characters observed in the patient, which is one of the major symptoms of Mohr syndrome is explained by Norwegian geneticist Otto L.[ijcasereportsandimages.com]
  • […] in Adults (Adult Treatment Panel III).[cigota.rs]
  • Stewart et al grouped the treatment of dens evaginatus into those techniques employed on vital or non-vital teeth. [12] The treatment varies with the circumstances of individual case ranging from selective grinding and prophylactically resorting the grooves[jisppd.com]


  • Prognosis Prognosis is poor. The combination of deafness and blindness severely affects communication, while the ongoing movement disorder results in an increasingly unstable gait.[rarediseases.info.nih.gov]
  • Prenatal ultrasound examination was very useful in the management, prognosis and detection of this case. The prenatal diagnosis is necessary for the detection of fetal abnormalities to all pregnancies and especially for the risk categories. 1.[medresearch.in]
  • Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004 Nov. 127:2533-9. [Medline]. Ruchoux MM, Maurage CA.[emedicine.medscape.com]


  • Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.com]
  • Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.de]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology MTS is caused by either a mutation in the TIMM8A gene (located to Xq22) or by a CGS at Xq22, resulting in a deafness-dystonia peptide 1 (DDP1) deficiency.[rarediseases.info.nih.gov]
  • […] polydactyly preaxial polydactylytype 2: polydactyly of a triphalangeal thumb preaxial polydactylytype 3: polydactyly of an index finger preaxial polydactyly type 4: polysyndactyly central polydactyly (medial ray) postaxial polydactyly (lateral ray) Etiology[humpath.com]


  • Epidemiology Prevalence is unknown. More than 90 cases (37 families) are known, but not all cases have been reported in the literature.[rarediseases.info.nih.gov]
  • Epidemiology Frequency United States The incidenceand prevalence of CADASIL in the United States are not known. International The incidence and prevalence of CADASIL worldwide are not known.[emedicine.medscape.com]
Sex distribution
Age distribution


  • Pathophysiology CADASIL is caused by a mutation in the NOTCH3 gene on chromosome 19q12. The gene mutation was first identified in 1996. [3] NOTCH3 codes for a transmembrane receptor protein whose function is not precisely known.[emedicine.medscape.com]


  • In those with secondary complications, intravenous immunoglobulin may prevent infections in XLA. Furthermore, live viral vaccines should be avoided in cases of XLA.[rarediseases.info.nih.gov]
  • .: Specific inhibitors and promoters of calcium action in the excitation-contraction coupling of heart muscle and their role in the prevention or production of myocardial lesions. In Calcium and the Heart, ed. ‎[books.google.es]
  • Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs[emedicine.medscape.com]
  • CASE REPORT Year : 2006 Volume : 24 Issue : 5 Page : 41-43 Dens evaginatus of anterior teeth (talon cusp) associated with other odontogenic anomalies Department of Pedodontics and Preventive Dentistry, Govt.[jisppd.com]
  • Regular appointments with an ear-nose-throat specialist are recommended to prevent persistent ear problems.[socialstyrelsen.se]



  1. Jones KL, Jones MC, Del Campo M. Smith’s recognizable patterns of human malformation. 5th ed. Philadelphia, PA: Saunders Elsevier; 1997. P. 264.
  2. Havle A, Shedge S, Malashetti S, Jain V. Oro-facial-digital syndrome type II with otolaryngological manifestations. J Oral Maxillofac Pathol. 2015;19(2):266.
  3. Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2007;143A(24):3314-23.
  4. Prpic I, Cekada S, Franulovic J. Mohr syndrome (oro-facial-digital syndrome II) – A familial case with different phenotypic findings. Clin Genet. 1995;48(6):304–7.
  5. Steichen-Gersdorf E, Gassner I, Covi B, Fischer H. Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: Report of a new case with congenital stenosis of the trachea. Clin Dysmorphol. 1994;3(3):245–50.
  6. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Orocardiodigital syndrome: An oral–facial–digital type II variantassociated withatrioventricular canal. 1996;33(5):416-8.
  7. Hsieh Y, Hou J. Oral–facial–digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. 1999; 86(3):278-81.
  8. Annerén G, Gustavson KH, Jòzwiak S, Kjartansson S, Strömberg B. Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). Clin Genet. 1990; 38(1):69-73.
  9. Shawky RM, Elsayed SM, Abd-Elkhalek HS, Gad S. Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi. Egyptian J Med Human Genet, 2013; 14(3): 311–5.
  10. Lage C, Pinto da Silva L, Fonseca L, Cruz R. Diagnostic and clinical procedures of a patient with oral-facial-digital type II syndrome: a case report. J Clin Exp Dent. 2011;3(3):e261-4.
  11. Iaccarino M, Lonardo F, Giugliano M, Bruna D. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn. 1985;5(6):415-8.

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Last updated: 2019-07-11 22:13