Micrognathia, and Dysphagia

Diseases related with Micrognathia and Dysphagia

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

Top matches:

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

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

Other less relevant matches:

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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 (AChR) 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:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Top 5 symptoms//phenotypes associated to Micrognathia and Dysphagia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Arthrogryposis multiplex congenita Areflexia Neonatal hypotonia Facial palsy Facial diplegia Neck muscle weakness Decreased fetal movement Motor delay Scoliosis Abnormal facial shape Global developmental delay Easy fatigability Progressive muscle weakness Congenital contracture

Rare Symptoms - Less than 30% cases

Weak cry Type 2 muscle fiber atrophy Dysarthria Macrotia Respiratory distress Respiratory insufficiency due to muscle weakness Gowers sign Skeletal muscle atrophy Hypertelorism Peripheral neuropathy Spinal rigidity Cardiomyopathy Scapular winging Feeding difficulties in infancy Spinal muscular atrophy Pes cavus Increased variability in muscle fiber diameter Generalized amyotrophy Reduced vital capacity Nemaline bodies Myopathy Hyporeflexia Peripheral axonal neuropathy Delayed speech and language development Cleft palate Polyhydramnios Paralysis Fetal akinesia sequence Oral-pharyngeal dysphagia Distal arthrogryposis Narrow forehead Recurrent fractures Broad forehead Arachnodactyly Type 1 muscle fiber predominance Joint hypermobility Long eyelashes Blue sclerae Bowing of the long bones Umbilical hernia Bulbar signs Mildly elevated creatine phosphokinase EMG: myopathic abnormalities Exercise intolerance Muscle stiffness Joint laxity Slender build Breech presentation Progressive proximal muscle weakness Poor head control Nasal speech Difficulty climbing stairs Fatigable weakness of bulbar muscles Increased muscle lipid content Difficulty running Generalized limb muscle atrophy Pneumonia Myofibrillar myopathy Wide nasal bridge Poor fine motor coordination Abnormality of the dentition Disproportionate tall stature Hernia Wormian bones Femoral bowing Sacral dimple Difficulty walking Dental crowding Dolichocephaly Poor speech Thick eyebrow High, narrow palate Limb muscle weakness Narrow chest Submucous cleft soft palate Hypoglycemia Tented philtrum Highly arched eyebrow Broad eyebrow Neonatal hypoglycemia Dysphonia Tented upper lip vermilion Broad nasal tip Short philtrum Long face Narrow face Generalized osteoporosis Pathologic fracture Clumsiness Long palpebral fissure Bradykinesia Waddling gait Thin ribs Vertebral compression fractures Thin bony cortex Retrognathia Biconcave vertebral bodies Intellectual disability Seizures Muscular hypotonia Intellectual disability, severe Depressivity Babinski sign Hyperactivity Tall stature Microretrognathia Frequent falls Respiratory insufficiency Short finger Abnormality of the musculature Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Ophthalmoplegia Metatarsus adductus Hearing impairment Strabismus Sensorineural hearing impairment Low-set ears Depressed nasal bridge Epicanthus Anteverted nares Mild short stature Hammertoe Midface retrusion Mandibular prognathia Knee flexion contracture Pterygium Akinesia Short stature Macrocephaly Talipes equinovarus Syndactyly Camptodactyly Deep philtrum Hip dislocation Abnormality of the foot Facial asymmetry Talipes Muscle cramps Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Short nose Posteriorly rotated ears Falls Diaphragmatic eventration Hypohidrosis Severe muscular hypotonia Patent foramen ovale Neonatal respiratory distress Axonal loss Secundum atrial septal defect Muscle fiber atrophy Fractures of the long bones Premature birth Multiple prenatal fractures Elevated serum creatine phosphokinase Recurrent respiratory infections Pes planus Proximal muscle weakness Respiratory tract infection Distal muscle weakness Oligohydramnios Pulmonary hypoplasia Hypermetropia Accommodative esotropia Smooth philtrum Downturned corners of mouth Esotropia High hypermetropia Facial paralysis High-frequency hearing impairment Esophoria Generalized muscle weakness Abnormal cardiac septum morphology Poor suck Ophthalmoparesis Bulbar palsy Decreased miniature endplate potentials Congestive heart failure Patent ductus arteriosus Respiratory failure Narrow mouth Neuromuscular dysphagia


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