Micrognathia, and Gait disturbance

Diseases related with Micrognathia and Gait disturbance

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

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Other less relevant matches:

Low match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Low match METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE


Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE Is also known as spondylometaphyseal dysplasia, japanese type

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

Low match MYOPATHY, MYOFIBRILLAR, 8; MFM8


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

Low match TYPICAL NEMALINE MYOPATHY


Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about TYPICAL NEMALINE MYOPATHY

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Low match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Top 5 symptoms//phenotypes associated to Micrognathia and Gait disturbance

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Scoliosis Neonatal hypotonia Ataxia Hypertelorism Hyperactivity Ptosis Abnormal facial shape Global developmental delay Short stature

Rare Symptoms - Less than 30% cases


Behavioral abnormality Constipation Flexion contracture Respiratory insufficiency Wide nasal bridge Falls Muscle weakness Aggressive behavior Respiratory tract infection Gait ataxia Frequent falls Feeding difficulties in infancy Genu varum Myopathy Hyporeflexia Elevated serum creatine phosphokinase Waddling gait Pes planus Facial palsy Hearing impairment Easy fatigability Spinal rigidity Nemaline bodies Short neck Hyperlordosis Hypotelorism Nystagmus Gowers sign Thick lower lip vermilion Arthrogryposis multiplex congenita Cerebral cortical atrophy Autism Cerebellar hypoplasia Macrotia Absent speech Hypertonia Failure to thrive Febrile seizures Depressed nasal bridge Epicanthus Developmental regression Autistic behavior Generalized amyotrophy Neck muscle weakness Myofibrillar myopathy Progressive proximal muscle weakness Distal muscle weakness Peripheral axonal neuropathy Dental crowding Tall stature Difficulty climbing stairs Progressive muscle weakness Scapular winging Difficulty running Poor head control Unsteady gait Nasal speech Pectus carinatum Proximal muscle weakness Bilateral sensorineural hearing impairment Relative macrocephaly Metaphyseal cupping of metacarpals Broad middle phalanx of finger Enlargement of the proximal femoral epiphysis Metaphyseal cupping of proximal phalanges Proximal femoral metaphyseal abnormality Distal tibial bowing Peripheral neuropathy Reduced visual acuity Dysphagia Areflexia Pachygyria Open mouth Recurrent respiratory infections Pes cavus Intellectual disability, profound Reduced vital capacity Polyhydramnios Kyphosis Postnatal microcephaly Abnormality of bone mineral density Macrocephaly Spasticity Sensorineural hearing impairment Strabismus Obsessive-compulsive behavior Self-injurious behavior Stereotypy Gastroesophageal reflux Tremor Short palpebral fissure Underdeveloped nasal alae Anxiety Joint laxity Wide mouth Abnormal cerebellum morphology Thick vermilion border Attention deficit hyperactivity disorder Fatigable weakness of distal limb muscles Fatigable weakness of respiratory muscles Pectus excavatum Increased variability in muscle fiber diameter Short philtrum Upslanted palpebral fissure Hip dislocation Narrow chest Genu valgum Prominent forehead Narrow face Foot dorsiflexor weakness Midface retrusion Fatiguable weakness of proximal limb muscles Hypokinesia Facial diplegia Limb-girdle muscle weakness Type 1 muscle fiber predominance Long philtrum Neck flexor weakness Intellectual disability, mild Axial muscle weakness Nocturnal hypoventilation Irregular acetabular roof Frontal bossing Moderately short stature Mandibular prognathia Bulbous nose Narrow forehead Eczema Failure to thrive in infancy Hallux valgus Thickened helices Small earlobe Low-set ears Respiratory distress Apnea Small for gestational age Long face Generalized muscle weakness Dental malocclusion Decreased fetal movement Narrow palpebral fissure Poor suck Multiple joint contractures Prominent occiput Weak cry Severe global developmental delay Abnormality of the pinna Cataract Chorea Cognitive impairment Ventriculomegaly Hypoplasia of the corpus callosum Dystonia Encephalopathy Thin upper lip vermilion Generalized tonic-clonic seizures Smooth philtrum Inability to walk Delayed myelination Deeply set eye Focal-onset seizure Epileptic encephalopathy Status epilepticus Hemiparesis Limb hypertonia Growth delay Delayed speech and language development Intrauterine growth retardation Intellectual disability, severe Fatigable weakness Babinski sign Diaphyseal thickening Abnormality of epiphysis morphology Decreased adipose tissue around neck Brachydactyly Dilatation Craniosynostosis Platyspondyly Short distal phalanx of finger Limb undergrowth Abnormality of the metaphysis Bowing of the long bones Coxa vara Loss of subcutaneous adipose tissue in limbs Hypercalcemia Short middle phalanx of finger Mild short stature Bowing of the legs Femoral bowing Irregular vertebral endplates Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Metaphyseal cupping Lack of facial subcutaneous fat Absence of subcutaneous fat Rod-cone dystrophy Hypertriglyceridemia Retinopathy Congenital cataract Lower limb muscle weakness Dysmetria Paresthesia Distal sensory impairment Hypotension Pigmentary retinopathy Epidermal acanthosis Abnormality of the face Orthostatic hypotension Insulin resistance Clonus Pancreatitis Acanthosis nigricans Hyperlipidemia Hypercholesterolemia Lipodystrophy Glucose intolerance Brisk reflexes Frontal upsweep of hair



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