Generalized hypotonia, and Brachycephaly

Diseases related with Generalized hypotonia and Brachycephaly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Other less relevant matches:

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Autistic behavior Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe Autism Aggressive behavior Short stature High palate Low-set ears Behavioral abnormality Wide mouth Abnormal facial shape Short philtrum Hypertelorism Neonatal hypotonia Delayed speech and language development

Rare Symptoms - Less than 30% cases

Prominent supraorbital ridges Growth delay Thin upper lip vermilion Muscular hypotonia Ptosis Low anterior hairline Intellectual disability, mild Smooth philtrum Hypotelorism Motor delay Deeply set eye Plagiocephaly Obesity Strabismus Hypermetropia Postnatal microcephaly Macrotia Bifid uvula Febrile seizures Unilateral cleft lip Bruxism Mild microcephaly Overweight Slender finger Truncal obesity Highly arched eyebrow Severe muscular hypotonia Progressive microcephaly Abnormality of the pinna Round face Flat occiput Downturned corners of mouth Cleft upper lip Increased number of teeth Synophrys Abnormality of the cerebral white matter Developmental regression Cleft lip Hyperactivity Hypoplasia of the corpus callosum Short neck Wide nasal bridge Abnormality of the cerebellar vermis Horizontal eyebrow Depressed nasal bridge Everted lower lip vermilion Anemia Cleft palate Hearing impairment Impaired social interactions Mildly elevated creatine phosphokinase Cupped ear Long eyelashes Intention tremor Prominent nose Broad nasal tip Epicanthus Single transverse palmar crease Pain Brittle hair Wide nose Falls Unsteady gait Abnormality of the nervous system Upslanted palpebral fissure Elevated serum creatine phosphokinase Conductive hearing impairment Thick eyebrow Tremor Intrauterine growth retardation Frequent falls Intellectual disability, profound Methylmalonic acidemia Hyporeflexia Agenesis of corpus callosum Cerebellar atrophy Ventriculomegaly Sensorineural hearing impairment Scoliosis Retrocerebellar cyst Short upper lip Slender build Facial hypotonia Narrow palate Distal muscle weakness Myoclonus Macrocephaly Craniosynostosis Muscle weakness Large hands Thick lower lip vermilion Long face Narrow mouth Gait ataxia Downslanted palpebral fissures Ataxia Abnormality of the head Poor speech Absent speech Feeding difficulties High forehead Dandy-Walker malformation Homocystinuria Congenital blindness Methylmalonic aciduria Athetosis Short chin Increased body weight Choreoathetosis Hypsarrhythmia Chorea Tapered finger Anxiety Acidosis Failure to thrive Fused labia minora Clitoral hypertrophy Spina bifida Abnormality of the skin Prominent nasal bridge Prominent forehead Abnormality of metabolism/homeostasis Blindness Atrial septal defect Anteverted nares Frontal bossing Optic atrophy Anterior plagiocephaly Turricephaly Delayed cranial suture closure Spina bifida occulta Bilateral conductive hearing impairment


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