Generalized hypotonia, and Abnormality of skin pigmentation

Diseases related with Generalized hypotonia and Abnormality of skin pigmentation

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

Top matches:

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Other less relevant matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Muscular hypotonia Severe muscular hypotonia Growth delay Nystagmus Abnormal facial shape Microcephaly Cataract Hypopigmentation of the skin Hearing impairment Scoliosis Short stature Spasticity Cerebellar hypoplasia Microphthalmia

Rare Symptoms - Less than 30% cases

Frontal bossing Generalized hypopigmentation Flexion contracture Prominent forehead Unsteady gait Ventricular hypertrophy Joint laxity Sensorineural hearing impairment Hyporeflexia Premature graying of hair Coloboma Neonatal hypotonia Macrocephaly Ataxia White hair Respiratory insufficiency Myopia Tachycardia Hypoplasia of the pons Feeding difficulties in infancy Cerebellar cyst Corneal opacity Pterygium Agyria Muscular dystrophy Relative macrocephaly Finger clinodactyly Decreased body weight Ambiguous genitalia Triangular face Severe global developmental delay Abnormality of the cerebral white matter Small hand Retinal detachment Retrognathia Hypoplasia of the brainstem Dandy-Walker malformation Cerebellar dysplasia Delayed skeletal maturation High myopia Patent ductus arteriosus Hypospadias Aqueductal stenosis Intellectual disability, profound Pachygyria Cryptorchidism Left ventricular hypertrophy Lissencephaly Severe hydrocephalus Congenital muscular dystrophy Type II lissencephaly Hyperhidrosis Melanocytic nevus Intention tremor Behavioral abnormality Pes cavus Gait ataxia Pes planus Malabsorption Dysmetria Abnormal cerebellum morphology Gliosis Limb ataxia Gait disturbance Incoordination Dysdiadochokinesis Gaze-evoked nystagmus Hyperactive deep tendon reflexes Ocular albinism Enlarged cisterna magna Abnormality of the retinal vasculature Dilated fourth ventricle Saccadic smooth pursuit Cerebellar atrophy Tremor Unilateral cryptorchidism Sensory neuropathy Penoscrotal hypospadias Pain High palate Peripheral neuropathy Fever Talipes equinovarus Areflexia Apnea Scarring Open mouth Dysarthria Bradycardia Short chin Hand clenching Corneal scarring Alacrima Limited hip extension Blotching pigmentation of the skin Delayed speech and language development Hyperreflexia Elevated serum creatine phosphokinase Retinopathy Dilatation Hypertelorism Thin upper lip vermilion Deeply set eye Abnormal cardiac septum morphology Flat face Inability to walk Sandal gap Hyperplasia of the maxilla Cognitive impairment Absent speech Depressed nasal bridge Dysphagia Abnormality of the skeletal system Short neck Atrial septal defect Pectus carinatum Dolichocephaly Pulmonic stenosis Narrow mouth Short nose Narrow forehead Cardiac arrest Failure to thrive Strabismus Intrauterine growth retardation Cardiomyopathy Agenesis of corpus callosum Muscular hypotonia of the trunk Dilated cardiomyopathy Ventricular tachycardia Brachydactyly Ventricular fibrillation Pericardial effusion Sclerocornea Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Histiocytoid cardiomyopathy Hyperpigmented streaks Webbed neck Hyperpigmentation of the skin Hydrocephalus Freckling Hypertonia Recurrent infections Abnormality of movement Cerebral calcification Exotropia Diplopia Hyperlipidemia Iris hypopigmentation Precocious puberty Hemophagocytosis Partial albinism Silver-gray hair Generalized bronze hyperpigmentation Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Ventriculomegaly Respiratory distress Cortical dysplasia Broad-based gait Poor suck Preauricular pit Mild short stature Thickened helices Micrognathia Posteriorly rotated ears Telecanthus Congenital cataract Microcornea Congenital sensorineural hearing impairment Albinism Dyskinesia Shallow orbits Osteopetrosis Blue irides Visual impairment Hypoplasia of the corpus callosum Hyperactivity Aggressive behavior Autistic behavior Nonprogressive cerebellar ataxia


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