Micrognathia, and Hyperreflexia

Diseases related with Micrognathia and Hyperreflexia

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

Top matches:

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Other less relevant matches:

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

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Low match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Micrognathia and Hyperreflexia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Short stature Feeding difficulties Ventriculomegaly Failure to thrive Sloping forehead Cortical gyral simplification Ataxia Spastic tetraplegia Hypertonia Pachygyria Arthrogryposis multiplex congenita Cerebral cortical atrophy Delayed speech and language development Growth delay Hyperactivity Intellectual disability, severe Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Muscular hypotonia Cortical dysplasia Delayed myelination Upslanted palpebral fissure Tetraplegia Low-set ears Agenesis of corpus callosum Profound global developmental delay Scoliosis Muscular hypotonia of the trunk Hypertelorism Ptosis Cognitive impairment Babinski sign Lower limb muscle weakness Flexion contracture Gliosis Postnatal microcephaly Hypsarrhythmia Thin upper lip vermilion Heterotopia Abnormal facial shape Respiratory insufficiency Wide nasal bridge Encephalopathy Long philtrum Absent speech Intellectual disability, moderate Cerebellar hypoplasia Lissencephaly Cerebral atrophy Fasciculations Severe muscular hypotonia Short neck Widely spaced teeth Atrophy/Degeneration affecting the brainstem CNS hypomyelination Sparse eyebrow Progressive neurologic deterioration Facial hypotonia Chronic constipation Diffuse cerebral atrophy Tongue fasciculations Cryptorchidism Hepatomegaly Myoclonus Stroke-like episode Neuronal loss in central nervous system Abnormality of the coagulation cascade Inverted nipples Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of coagulation Abnormality of the posterior cranial fossa Abnormal isoelectric focusing of serum transferrin Bilateral basal ganglia lesions Mild short stature Adducted thumb Reduced visual acuity Abnormal bleeding Muscle weakness Skeletal muscle atrophy Optic atrophy Cerebellar atrophy Elevated serum creatine phosphokinase Abnormality of the foot Constipation Developmental regression Neurodegeneration Hypoplasia of penis High palate Wide mouth Strabismus Macrocephaly Downslanted palpebral fissures Abnormality of the skeletal system Atrial septal defect Kyphosis Brachycephaly Autism Narrow mouth Autistic behavior Short philtrum Temperature instability Small for gestational age Poor speech Thick eyebrow Thick vermilion border Highly arched eyebrow Short palpebral fissure Microretrognathia Cerebral palsy Wide nasal base Prominent nasal tip Type I lissencephaly Abnormality of temperature regulation Motor delay Malabsorption Ventricular septal defect Diarrhea Patent ductus arteriosus Prominent forehead Respiratory failure Micropenis High forehead Feeding difficulties in infancy Prominent nasal bridge Severe global developmental delay Pulmonary hypoplasia Duane anomaly Decreased testicular size Specific learning disability Ambiguous genitalia Aganglionic megacolon Chronic diarrhea Hypohidrosis Wide anterior fontanel Infantile spasms Exocrine pancreatic insufficiency Hydranencephaly Long upper lip Visual impairment Spastic gait Sensorineural hearing impairment Hypertriglyceridemia Gait ataxia Retinopathy Congenital cataract Dysmetria Paresthesia Distal sensory impairment Hypotension Pigmentary retinopathy Epidermal acanthosis Abnormality of the face Cataract Insulin resistance Clonus Pancreatitis Acanthosis nigricans Hyperlipidemia Hypercholesterolemia Lipodystrophy Glucose intolerance Brisk reflexes Orthostatic hypotension Rod-cone dystrophy Nystagmus Loss of subcutaneous adipose tissue in limbs Maternal diabetes Intrauterine growth retardation Aggressive behavior Polymicrogyria Decreased fetal movement Thick lower lip vermilion Tetraparesis Hemiparesis Spastic tetraparesis Impulsivity Abnormal corpus callosum morphology Exaggerated startle response Schizencephaly Blindness Macrotia Cerebral visual impairment Progressive microcephaly Large hands Progressive encephalopathy Hypoplasia of the pons Long foot Dilation of lateral ventricles Absence of subcutaneous fat Lack of facial subcutaneous fat Hearing impairment Progressive spastic paraplegia Cafe-au-lait spot Narrow face Horseshoe kidney Paraparesis Spastic paraparesis Abnormality of the genitourinary system Bowel incontinence Premature graying of hair Axonal degeneration Vitiligo Waddling gait Progeroid facial appearance White hair Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Febrile seizures Sensory impairment Decreased adipose tissue around neck Small cerebral cortex Hypogonadism Craniosynostosis Vesicoureteral reflux Hypergonadotropic hypogonadism Unilateral renal agenesis Chromosome breakage Mild microcephaly Abnormal cortical bone morphology Bird-like facies Hypoplasia of the frontal lobes Increased rate of premature chromosome condensation Nevus Peripheral neuropathy Gait disturbance Kyphoscoliosis Retrognathia Abnormality of the nervous system Hip dislocation Spastic paraplegia Paraplegia Hypopigmentation of the skin Sepsis Decreased palmar creases


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