Micrognathia, and Ophthalmoplegia

Diseases related with Micrognathia and Ophthalmoplegia

In the following list you will find some of the most common rare diseases related to Micrognathia and Ophthalmoplegia that can help you solving undiagnosed cases.

Top matches:

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Other less relevant matches:

Low match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Ophthalmoplegia

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Ophthalmoplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Arthrogryposis multiplex congenita Short stature Intellectual disability Motor delay Hyperlordosis Feeding difficulties Polyhydramnios Skeletal muscle atrophy Decreased fetal movement Congenital hip dislocation Scoliosis Epicanthus Cryptorchidism Facial palsy Myopathy Short neck Kyphoscoliosis Anteverted nares Camptodactyly Hearing impairment Muscular hypotonia Distal arthrogryposis Bilateral talipes equinovarus Decreased muscle mass Failure to thrive Lumbar hyperlordosis Generalized hypotonia Pectus excavatum Weak cry Congenital contracture Hypertension Respiratory insufficiency Areflexia

Rare Symptoms - Less than 30% cases

Brachydactyly Talipes Knee flexion contracture Interphalangeal joint contracture of finger Webbed neck Triangular face Abnormality of skin pigmentation Arachnodactyly Abnormality of the foot Finger syndactyly Hypoventilation Retinopathy Abnormal lung morphology Protruding ear Deeply set eye Ulnar deviation of finger Abnormality of the rib cage Joint stiffness Sensorineural hearing impairment Mask-like facies Aplasia/Hypoplasia of the radius Poor suck Aplasia/Hypoplasia of the tongue Aplasia of the pectoralis major muscle EMG: myopathic abnormalities Waddling gait Cranial nerve paralysis Generalized muscle weakness Long face Gastroesophageal reflux Joint laxity Hydronephrosis Pneumonia Microcephaly Strabismus Recurrent respiratory infections Clinodactyly of the 5th finger Muscle weakness Adducted thumb Elbow flexion contracture Round face Downslanted palpebral fissures Neck muscle weakness Easy fatigability Respiratory distress Hip contracture Submucous cleft hard palate Severe muscular hypotonia Bifid uvula Dilated cardiomyopathy Neonatal hypotonia Retrognathia Narrow mouth Elevated serum creatine phosphokinase Pterygium Restrictive ventilatory defect Global developmental delay Unilateral ptosis Paralysis Impaired ocular abduction Fever Vomiting Diarrhea Dilatation Abnormality of cardiovascular system morphology Constipation Glossoptosis Abdominal pain Weight loss Umbilical hernia Ankylosis Low-set, posteriorly rotated ears Pain Abnormality of the liver Prominent nasal bridge Broad forehead Narrow chest Abdominal distention Vesicoureteral reflux Intestinal malrotation Overgrowth Aganglionic megacolon Hypertensive crisis Recurrent urinary tract infections Peripheral neuropathy Internally rotated shoulders Heterotopia Tapetoretinal degeneration Long fingers Vertebral segmentation defect Abnormality of the hip bone Congenital facial diplegia Tarsal synostosis Hypoplasia of the brainstem Abnormality of the sternum Keratoconus Plagiocephaly Aplasia/Hypoplasia of the cerebellum Overlapping fingers Retinal fold Pancreatitis Duane anomaly Ulnar deviation of the wrist Decreased palmar creases Keratoglobus Round ear Congenital finger flexion contractures Absent phalangeal crease Limited wrist extension Amyoplasia Decreased facial expression Firm muscles Exophoria Horseshoe kidney Cerebral calcification Hyperhidrosis Abnormality of the larynx Neuroma Gastrointestinal obstruction Hypoperistalsis Megaduodenum Oculomotor nerve palsy Growth delay Hypoplasia of the musculature Abnormal facial shape Depressed nasal bridge Macrocephaly Ulnar deviation of the hand Ventriculomegaly Urethral obstruction Facial diplegia Villous atrophy Thin vermilion border Macular dystrophy Abnormal cardiac septum morphology Trismus Atrial septal defect Short nose Long philtrum Flushing Absent speech Hypospadias Barrett esophagus Megacystis External ophthalmoplegia Chronic constipation Hypoalbuminemia Portal hypertension Pierre-Robin sequence Glandular hypospadias Intestinal obstruction Malnutrition Anonychia Hydroureter Relative macrocephaly Hyperparathyroidism Nocturnal hypoventilation Episodic abdominal pain Broad nasal tip Tapered finger Achalasia Volvulus Microglossia Peritonitis Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Intestinal pseudo-obstruction Urinary retention Pollakisuria Microcolon Laryngeal stenosis Prune belly Disproportionate tall stature Dysphonia Bilateral ptosis Reduced vital capacity Down-sloping shoulders Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Pulmonary hypoplasia Scapular winging Respiratory insufficiency due to muscle weakness Reduced tendon reflexes Tented upper lip vermilion Calf muscle hypertrophy Mildly elevated creatine phosphokinase Ankle contracture Flexion contracture of finger Cutaneous finger syndactyly Type 1 muscle fiber atrophy Fatigable weakness of bulbar muscles Visual impairment Autism Feeding difficulties in infancy Corneal opacity Everted lower lip vermilion Microdontia Open mouth Hypogonadotrophic hypogonadism Reduced number of teeth Abnormality of the voice Multiple cafe-au-lait spots Thoracolumbar scoliosis Overlapping toe Blepharitis Hypoplastic labia majora Cardiomyopathy Centrally nucleated skeletal muscle fibers Axial muscle weakness Macrotia Progressive muscle weakness Type 2 muscle fiber atrophy Pes planus Hip dislocation Bulbous nose Highly arched eyebrow Exotropia Rocker bottom foot Furrowed tongue Abnormal vertebral morphology Labial hypoplasia Pulmonary insufficiency Calcaneovalgus deformity Tongue atrophy Limited knee flexion Intellectual disability, mild Syndactyly Camptodactyly of finger Facial asymmetry Single transverse palmar crease Limitation of joint mobility Dandy-Walker malformation Short phalanx of finger Aplasia/Hypoplasia of the thumb Abnormality of the ulna Abnormal electroretinogram EMG: impaired neuromuscular transmission Spinal deformities Central sleep apnea EEG with polyspike wave complexes Staring gaze Sudden episodic apnea Nasal regurgitation Apneic episodes precipitated by illness, fatigue, stress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress Acetylcholine receptor antibody positivity Muscle fiber atrophy Wide nasal bridge Congestive heart failure Clinodactyly Alopecia Blepharophimosis Hypermetropia Abnormality of eye movement Astigmatism Wide intermamillary distance Abnormality of retinal pigmentation Joint contracture of the hand Narrow face Bilateral single transverse palmar creases Respiratory arrest Motor polyneuropathy Breast aplasia Distal amyotrophy Absent hand Abnormality of the sense of smell Aplasia/Hypoplasia involving the metacarpal bones Seizures Ataxia Nystagmus Low-set ears Hyporeflexia Pes cavus Difficulty walking Proximal muscle weakness Pectus carinatum Esotropia Distal lower limb muscle weakness Cyanosis Diplopia Microretrognathia Poor head control Nasal speech Stridor Toe walking Bulbar palsy Spinal rigidity Fatigable weakness Central hypotonia Obstructive sleep apnea Limb-girdle muscle weakness Pectoralis hypoplasia


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