Muscular hypotonia, and Abnormality of skin pigmentation

Diseases related with Muscular hypotonia and Abnormality of skin pigmentation

In the following list you will find some of the most common rare diseases related to Muscular 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

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

Low match PIEBALDISM

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

PIEBALDISM Is also known as piebaldism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PIEBALDISM

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

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Ataxia Premature graying of hair Hearing impairment Severe muscular hypotonia Spasticity Blue irides Abnormal facial shape Microcephaly Cerebellar hypoplasia Microphthalmia Myopia

Rare Symptoms - Less than 30% cases

Partial albinism Feeding difficulties Joint laxity Strabismus Scoliosis Albinism Growth delay Ventricular hypertrophy Aganglionic megacolon Congenital sensorineural hearing impairment Coloboma Telecanthus White hair Cataract Hypertonia Sensorineural hearing impairment Abnormality of movement Heterochromia iridis Hypopigmented skin patches Hypopigmentation of hair White eyelashes Wide nasal bridge White eyebrow Low-set ears Synophrys Motor delay Piebaldism White forelock Cortical dysplasia Neoplasm Anemia Leukodystrophy Spastic paraparesis Precocious puberty Broad-based gait Cerebellar cyst Intestinal obstruction Unilateral ptosis Hypoganglionosis Dyskinesia Autistic behavior Aggressive behavior Agyria Hyperactivity Long philtrum Microcolon Visual impairment Hypoplasia of the corpus callosum Hypoplasia of the brainstem Type II lissencephaly Severe global developmental delay Hydrocephalus Dilatation Hyporeflexia Elevated serum creatine phosphokinase Corneal opacity Muscular dystrophy Cerebellar dysplasia Aqueductal stenosis Abnormality of the cerebral white matter Respiratory insufficiency Retinal detachment Dandy-Walker malformation High myopia Intellectual disability, profound Pachygyria Left ventricular hypertrophy Lissencephaly Hypoplasia of the pons Respiratory distress Ventriculomegaly Neoplasm of the skin Retinopathy Abnormality of the ear Macule Congenital muscular dystrophy Abnormality of calvarial morphology Spotty hypopigmentation Poliosis Absent pigmentation of the ventral chest Recurrent infections Cerebral calcification Melanin pigment aggregation in hair shafts Diplopia Hyperlipidemia Freckling Iris hypopigmentation Hemophagocytosis Silver-gray hair Generalized bronze hyperpigmentation Accumulation of melanosomes in melanocytes Exotropia Cerebral cortical atrophy Polyneuropathy Unsteady gait Absent speech Narrow mouth Thin upper lip vermilion Deeply set eye Neonatal hypotonia Abnormal cardiac septum morphology Flat face Brachydactyly Inability to walk Sandal gap Hyperplasia of the maxilla Short stature Hypertelorism Cognitive impairment Depressed nasal bridge Short nose Hyperpigmented streaks Abnormality of the skeletal system Tachycardia Failure to thrive Intrauterine growth retardation Cardiomyopathy Agenesis of corpus callosum Muscular hypotonia of the trunk Dilated cardiomyopathy Cardiac arrest Histiocytoid cardiomyopathy Ventricular tachycardia Ventricular fibrillation Pericardial effusion Sclerocornea Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Dysphagia Short neck Intellectual disability, mild Muscle stiffness Generalized hypopigmentation Optic atrophy Tremor Recurrent respiratory infections Rigidity Specific learning disability Macular dystrophy Shallow orbits Generalized hyperpigmentation Abnormality of the optic nerve Subcortical cerebral atrophy Abnormality of the cerebellar vermis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Ptosis Osteopetrosis Preauricular pit Atrial septal defect Hyperpigmentation of the skin Prominent forehead Pectus carinatum Dolichocephaly Pulmonic stenosis Webbed neck Narrow forehead Poor suck Microcornea Mild short stature Thickened helices Micrognathia Macrocephaly Frontal bossing Posteriorly rotated ears Congenital cataract Severe hydrocephalus


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