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Oromandibular-limb hypogenesis spectrum(MBS)

MedGen UID:
66357
Concept ID:
C0221060
Disease or Syndrome
Synonyms: Absence or underdevelopment of the 6th and 7th cranial nerves; Congenital facial diplegia; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; MBS; Mobius Syndrome; Moebius Sequence; Moebius Syndrome; Möbius Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
SNOMED CT: Oromandibular-limb hypogenesis spectrum (89444000); Hypoglossia-hypodactyly syndrome (89444000); Facial-limb disruptive spectrum (89444000)
 
Cytogenetic location: 13q12.2-q13
OMIM®: 157900
Orphanet: ORPHA570

Definition

The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings. [from OMIM]

Additional description

From GHR
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals lack facial expressions; they cannot smile, frown, or raise their eyebrows. The muscle weakness also causes problems with feeding that become apparent in early infancy.Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common.Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes.Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills.Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.  https://ghr.nlm.nih.gov/condition/moebius-syndrome

Clinical features

Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
Clumsiness
MedGen UID:
66690
Concept ID:
C0233844
Sign or Symptom
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
Hand clenching
MedGen UID:
65994
Concept ID:
C0239815
Finding
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Clinodactyly
MedGen UID:
120550
Concept ID:
C0265610
Congenital Abnormality
Micropenis
MedGen UID:
78603
Concept ID:
C0266435
Congenital Abnormality
Hypogonadotropic hypogonadism 7 with or without anosmia
MedGen UID:
82883
Concept ID:
C0271623
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Lower limb undergrowth
MedGen UID:
138016
Concept ID:
C0345371
Congenital Abnormality
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Poor coordination
MedGen UID:
107874
Concept ID:
C0563243
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality of the pinna
MedGen UID:
167800
Concept ID:
C0857379
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Congenital fibrosis of extraocular muscles
MedGen UID:
724506
Concept ID:
C1302995
Disease or Syndrome
Facial diplegia
MedGen UID:
322796
Concept ID:
C1836003
Finding
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
322855
Concept ID:
C1836192
Finding
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Abnormality of the posterior cranial fossa
MedGen UID:
482398
Concept ID:
C3280768
Finding
Abnormality of pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Finding
MedGen UID:
425069
Concept ID:
CN001583

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOromandibular-limb hypogenesis spectrum
Follow this link to review classifications for Oromandibular-limb hypogenesis spectrum in Orphanet.

Recent clinical studies

Diagnosis

Milam RW Jr, Cabrera MT, Carter LA, Warner DD, Wereszczak JK, Aylsworth AS
Clin Dysmorphol 2014 Jul;23(3):101-4. doi: 10.1097/MCD.0000000000000039. PMID: 24859495

Clinical prediction guides

Martínez-Frías ML, García Mazario MJ, Caldas CF, Conejero Gallego MP, Bermejo E, Rodríguez-Pinilla E
Am J Med Genet 2001 Jan 15;98(2):201-3. PMID: 11223858

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