Muscular hypotonia, and Scarring

Diseases related with Muscular hypotonia and Scarring

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 3; VUR3

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Other less relevant matches:

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

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

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Scarring

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Fever Hernia Talipes equinovarus Failure to thrive Short stature Low-set ears

Rare Symptoms - Less than 30% cases

Delayed gross motor development Hyperhidrosis Frontal bossing Telecanthus Highly arched eyebrow Hypertension Downslanted palpebral fissures Protruding ear Umbilical hernia Seizures Flexion contracture High palate Peripheral neuropathy Hyperkeratosis Neonatal hypotonia Joint dislocation Sensory neuropathy Corneal scarring Scoliosis Micrognathia Hip dislocation Joint hypermobility Abnormal facial shape Blue sclerae Myopathy Motor delay Poor wound healing Fragile skin Hyperextensible skin Bruising susceptibility Congenital hip dislocation Cirrhosis Myalgia Vomiting Progressive muscle weakness Diarrhea Skeletal muscle atrophy Hypercholesterolemia Hydronephrosis Hepatomegaly Abdominal distention Hypertriglyceridemia Irritability Arachnodactyly Generalized muscle weakness Downturned corners of mouth Thick vermilion border Mitral valve prolapse Mitral regurgitation Dental crowding Adducted thumb Patent foramen ovale Anal atresia Bilateral talipes equinovarus Bulbous nose Hypoplasia of the musculature Nystagmus Strabismus Epicanthus Wide nasal bridge Upslanted palpebral fissure Sparse hair Short philtrum Facial hypotonia Increased hepatic glycogen content Talipes Congenital muscular torticollis Decreased fetal movement Elbow flexion contracture Torticollis Respiratory insufficiency due to muscle weakness Limb-girdle muscular dystrophy Congenital contracture Congenital muscular dystrophy Ankle contracture Limb-girdle muscle weakness Follicular hyperkeratosis Abnormality of the mitochondrion Diaphragmatic paralysis Limb-girdle muscle atrophy Broad nasal tip Necrotizing myopathy Plantar flexion contractures Hypertelorism Intellectual disability, mild Hypoplasia of the corpus callosum Long philtrum Cerebral atrophy Midface retrusion Inguinal hernia Brachycephaly Narrow mouth Arthralgia Camptodactyly Horizontal nystagmus Depressed nasal ridge Self-mutilation Abnormal autonomic nervous system physiology Opacification of the corneal stroma Self-injurious behavior Emotional lability Keratitis Anhidrosis Osteomyelitis Bowel incontinence Impaired pain sensation Episodic fever Aseptic necrosis Heat intolerance Thickened skin Lack of skin elasticity Recurrent corneal erosions Lichenification Pain insensitivity Hypotrichosis of the scalp Abnormality of dental color Corneal ulceration Palmar hyperkeratosis Acral ulceration Neuropathic arthropathy Autoamputation of digits Decreased number of small peripheral myelinated nerve fibers Skin ulcer Febrile seizures Papule Abnormality of the upper urinary tract Hypopigmented skin patches Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Dimple chin Nail dysplasia Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Behavioral abnormality Recurrent infections Hyporeflexia Hyperactivity Corneal opacity Nail dystrophy Carious teeth Decreased antibody level in blood Abnormality of the cardiovascular system Rigidity Muscular dystrophy Cachexia Malabsorption Hepatic failure Hepatic steatosis Ascites Pulmonary arterial hypertension Hepatic fibrosis Leukodystrophy Increased body weight Atherosclerosis Hyperlipidemia Portal hypertension Hepatosplenomegaly Malnutrition Steatorrhea Protuberant abdomen Abnormality of lipid metabolism Acute hepatic failure Esophageal varix Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Developmental regression Jaundice Adrenal calcification Progressive visual loss Ataxia Exercise-induced myalgia Ptosis Recurrent hypoglycemia Visual impairment Ketosis Anteverted nares Blindness Rod-cone dystrophy Myoglobinuria Nyctalopia Apraxia Weight loss Cerebellar vermis hypoplasia Recurrent urinary tract infections Multicystic kidney dysplasia Oculomotor apraxia Cone/cone-rod dystrophy Molar tooth sign on MRI Anemia Exercise intolerance Muscle stiffness Splenomegaly Decreased liver function Bone-marrow foam cells Growth delay Camptodactyly of finger Abnormality of the skeletal system Hydroureter Vesicoureteral reflux Iris coloboma Hallux valgus Atrophic scars Coloboma Soft skin Hyperextensibility of the finger joints Muscular hypotonia of the trunk Excessive wrinkled skin Subcutaneous hemorrhage Respiratory distress Chronic constipation Cardiomyopathy Polyhydramnios Elevated serum creatine phosphokinase Respiratory failure Constipation Kyphoscoliosis Increased muscle glycogen content Proximal muscle weakness Patent ductus arteriosus Paralysis Distal muscle weakness Wormian bones Osteoarthritis Muscle cramps Hypoglycemia Feeding difficulties Nausea Respiratory insufficiency Areflexia Nausea and vomiting Apnea Tachycardia Open mouth Bradycardia Short chin Hand clenching Alacrima Recurrent fractures Limited hip extension Blotching pigmentation of the skin Headache Kyphosis Osteoporosis Gastroesophageal reflux Pes planus Joint laxity Hyperlordosis Joint hyperflexibility Fatigue Postural hypotension with compensatory tachycardia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Inguinal hernia, related diseases and genetic alterations Lymphoma and Cirrhosis, related diseases and genetic alterations Depressed nasal bridge and Hirsutism, related diseases and genetic alterations Myopathy and Pectus carinatum, related diseases and genetic alterations Cognitive impairment and Midface retrusion, related diseases and genetic alterations