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  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 . 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 . Moreover, there is a duplication of the first metatarsal, cuneiform, and cuboid bones . Other skeletal features may include pectus excavatum and scoliosis.
Patients with Mohr syndrome also exhibit systemic manifestations such as conductive deafness   and possible developmental complications including laryngeal hypoplasia and tracheal stenosis . Additionally, affected individuals are at risk for cardiac malformations such as endocardial cushion and atrioventricular canal  . There are also case reports describing cerebellar atrophy and other changes in patients with this form of OFDS .
Intelligence is typically normal in patients with Mohr syndrome.
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.
Entire Body System
- 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]
- 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]
If the CGS includes the Bruton agammaglobulinemia tyrosine kinase (BTK) gene, recurrent infections secondary to this X-linked agammaglobulinemia (XLA) are present. [findzebra.com]
At age 2 years, bilateral hearing loss appeared and recurrent infections led to a diagnosis of Bruton agammaglobulinemia. At age 15, a progressive visual loss was noticed. [n.neurology.org]
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]
- 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]
Child also had some unusual features like the presence of systolic murmur, suggestive of congenital heart disease, tachypnea  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.  Typically in the Mohr syndrome, the hands show postaxial polydactyly and the feet show preaxial polydactyly which are seen in the proband.  Along with that, the proband also showed the tachypnea and respiratory disorders as explained by Gustavson [ijcasereportsandimages.com]
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 . Moreover, other recommended studies include magnetic resonance imaging (MRI) of the brain, audiometric assessment, an ophthalmologic evaluation, and abdominal ultrasound . OFDS patients with heart murmurs warrant cardiac evaluation with echocardiography . Laryngoscopy may be indicated as well . Since Mohr syndrome also affects dentition, a panoramic x-ray is required .
Routine widespread use of prenatal ultrasonography allows for the detection of fetal defects, which consequentially leads to genetic counseling  and the appropriate assessment.
Management and treatment Treatment of MTS is symptomatic and evolves over time. Hearing aids are used with variable success. [findzebra.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
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]
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, 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]
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]
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]
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 Mohr-Tranebjaerg syndrome (MTS) prevalence is unknown. More than 90 cases (37 families) are known, but not all cases have been reported in the literature. [findzebra.com]
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]
Pathophysiology CADASIL is caused by a mutation in the NOTCH3 gene on chromosome 19q12. The gene mutation was first identified in 1996.  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]
Mutations in the OFD1 gene prevent cells from making enough functional OFD1 protein, which disrupts the normal development of these structures [3,4]. Diagnosis of OFD syndrome type I when suspected, may be confirmed by genetic testing . [aclr.com.es]
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]
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