Generalized hypotonia, and Coarse facial features

Diseases related with Generalized hypotonia and Coarse facial features

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

Top matches:

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

Other less relevant matches:

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Coarse facial features. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Short stature Abnormal facial shape Ventriculomegaly Absent speech Dystonia Macroglossia Motor delay Delayed speech and language development Microcephaly Strabismus

Rare Symptoms - Less than 30% cases

Hypothyroidism Spastic paraplegia Paraplegia Ataxia Growth delay Nystagmus Dysarthria Sleep disturbance Constipation Focal-onset seizure Hypertrichosis Inability to walk Thick vermilion border Wide nasal bridge Umbilical hernia Feeding difficulties Abnormality of metabolism/homeostasis Poor speech Large fontanelles Flexion contracture Scoliosis Abnormality of the skeletal system Intellectual disability, mild Wide mouth Protruding tongue Abnormality of the periventricular white matter Genu recurvatum Facial hypotonia Impaired social interactions Excessive salivation Spastic tetraplegia Bruxism Hyperventilation Acetabular dysplasia Open mouth Everted upper lip vermilion Unilateral ptosis Hyperreflexia Neonatal hypotonia Pes planus Babinski sign Hypertonia Hypoplasia of the corpus callosum Talipes equinovarus High palate Short philtrum Bulbous nose Tetraplegia Progressive language deterioration Waddling gait Flared nostrils Febrile seizures Narrow forehead Severe postnatal growth retardation Depressed nasal bridge Increased intracranial pressure Agenesis of corpus callosum Carcinoma Joint stiffness Abnormal pyramidal sign Paraparesis Spastic paraparesis Holoprosencephaly Adducted thumb Hydrocephalus Hemiplegia/hemiparesis Absent septum pellucidum Renal cell carcinoma Aqueductal stenosis Clear cell renal cell carcinoma Flexion contracture of thumb Corticospinal tract hypoplasia Dilatation Macrocephaly Fatigue Hypopituitarism Jaundice Abdominal distention Growth hormone deficiency Omphalocele Wide anterior fontanel Intellectual disability, progressive Congenital hypothyroidism Loss of consciousness Cognitive impairment Pituitary hypothyroidism Pseudohypoparathyroidism Hoarse cry Narcolepsy Hypothalamic hypothyroidism Craniopharyngioma Neoplasm Cortical dysplasia Bifid nasal tip Language impairment Tetraparesis Generalized tonic-clonic seizures with focal onset Cerebellar atrophy Rigidity Severe global developmental delay Generalized tonic-clonic seizures Progressive cerebellar ataxia Clumsiness Epileptic encephalopathy Exotropia Spastic tetraparesis Athetosis Thickened calvaria Visceromegaly Vacuolated lymphocytes Focal impaired awareness seizure Cerebral cortical atrophy Aspartylglucosaminuria Thick lower lip vermilion Hypertelorism Prominent forehead Kyphoscoliosis Intellectual disability, moderate Small for gestational age Broad nasal tip Dental crowding Encephalopathy Long foot Failure to thrive Cerebral atrophy Intellectual disability, profound Arachnoid cyst Appendicular hypotonia Behavioral abnormality Oligosacchariduria Abnormality of the face Delayed gross motor development Abnormality of the nervous system Prominent nasal septum Ptosis Hyporeflexia Cerebellar hypoplasia Hyperactivity EEG abnormality Aggressive behavior Widow's peak Apnea Developmental regression Autistic behavior Neurological speech impairment Generalized-onset seizure Stereotypy Reduced tendon reflexes Broad eyebrow Anonychia Prolonged neonatal jaundice Synophrys Large posterior fontanelle Hearing impairment Sensorineural hearing impairment Short neck Kyphosis Upslanted palpebral fissure Joint hypermobility Deep philtrum Thick eyebrow Hirsutism Underdeveloped nasal alae Small nail Depressed nasal ridge Long eyelashes Gingival overgrowth Noncommunicating hydrocephalus


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