Generalized hypotonia, and Bruising susceptibility

Diseases related with Generalized hypotonia and Bruising susceptibility

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

Top matches:

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

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

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Other less relevant matches:

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Bruising susceptibility

Symptoms // Phenotype % cases
Blue sclerae Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
Joint hypermobility Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Muscular hypotonia Growth delay Soft skin Atrophic scars Hyperextensible skin Kyphoscoliosis Gait disturbance Motor delay Talipes equinovarus Global developmental delay Intellectual disability Periodontitis Hypertelorism Joint dislocation Joint hyperflexibility Midface retrusion Edema Osteoarthritis Mental deterioration Seizures Hepatosplenomegaly Ataxia Joint laxity Epistaxis Anemia Hepatomegaly Poor wound healing Thrombocytopenia Splenomegaly Failure to thrive Proptosis Osteopenia Pneumonia Flexion contracture Increased susceptibility to fractures Epicanthus Skeletal muscle atrophy Umbilical hernia Inguinal hernia Gingivitis Osteoporosis Mitral valve prolapse

Rare Symptoms - Less than 30% cases

Scarring Arterial rupture Abnormality of the foot Spasticity Hypersplenism Cutis laxa Myopia Tremor Bladder diverticulum Cutaneous photosensitivity Cleft soft palate Dysphagia Hyperpigmentation of the skin Hyporeflexia Recurrent respiratory infections Pancytopenia Arachnodactyly Cleft palate Spondylolisthesis Varicose veins Hiatus hernia Aortic root aneurysm Ectopia lentis Dilatation Hypertension Vertical supranuclear gaze palsy Pectus carinatum Neurodegeneration Abnormality of movement Abnormality of the eye Bifid uvula Ophthalmoplegia Neurological speech impairment Cerebral hemorrhage Developmental regression Vertebral compression fractures Abnormality of the nervous system Neonatal hypotonia Strabismus Jaundice Pectus excavatum Dementia Hearing impairment Aortic dissection Macrocephaly Depressed nasal bridge Intrauterine growth retardation Low-set ears Downslanted palpebral fissures Hyperextensibility of the finger joints Fragile skin Severe short stature Skeletal dysplasia Immunodeficiency Recurrent bacterial skin infections Wormian bones Recurrent fractures Kyphosis Micrognathia High palate Bowing of the long bones Hydrops fetalis Muscle weakness Pathologic fracture Abnormal bleeding Thin skin Broad forehead Curly hair Bowing of the legs Alopecia Bilateral cryptorchidism Prominent forehead Narrow mouth Telecanthus Elbow flexion contracture Microtia Elbow dislocation Sparse eyebrow Lipodystrophy Radioulnar synostosis Aortic valve stenosis Sparse eyelashes Coxa valga Hypermetropia Sparse and thin eyebrow Narrow chest Pulmonic stenosis Abnormality of skin pigmentation Flat face Single transverse palmar crease Triangular face Nevus Abnormality of cardiovascular system morphology Intellectual disability, severe Fine hair Accelerated skeletal maturation Sparse scalp hair Congenital diaphragmatic hernia Central hypotonia Intellectual disability, mild Hematuria Increased bone mineral density Aspiration Bone pain Arthritis Abnormal lung morphology Pulmonary arterial hypertension Confusion Generalized myoclonic seizures Delayed puberty Shock Proteinuria Dyspnea Otitis media Delayed skeletal maturation Encephalopathy Respiratory distress Abnormality of the skeletal system Fatigue Feeding difficulties Osteolysis Hyperkinesis Abnormality of the dentition Abnormal myocardium morphology Short neck Short clavicles Wide nasal bridge Cryptorchidism Abnormal facial shape Erlenmeyer flask deformity of the femurs Mitral valve calcification Aortic valve calcification Multiple myeloma Stridor Chronic fatigue Aspiration pneumonia Pulmonary infiltrates Aseptic necrosis Macular atrophy Pericardial effusion Interstitial pulmonary abnormality Increased antibody level in blood Oral-pharyngeal dysphagia Proportionate short stature Ulnar bowing Genu recurvatum Amblyopia Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Leukopenia Foot dorsiflexor weakness Skin ulcer Hypertriglyceridemia Sensory axonal neuropathy Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Gastrointestinal hemorrhage Lymphoma Brain atrophy Parkinsonism Hypopigmentation of the skin Albinism Resting tremor Sensory neuropathy Partial albinism Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Macular hypoplasia Progressive peripheral neuropathy Generalized hyperpigmentation Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Neutropenia Falls Atypical scarring of skin Absent earlobe Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Talipes equinovalgus Facial wrinkling Forearm undergrowth Recurrent bacterial infections Dermal translucency Long toe Small face Generalized osteoporosis Progeroid facial appearance Mild global developmental delay Phalangeal dislocation Abnormality of primary teeth Peripheral axonal neuropathy Reduced visual acuity Lymphadenopathy Paresthesia Paraplegia Spastic paraplegia Leukemia Rigidity Photophobia Difficulty walking Areflexia Palmoplantar cutis gyrata Recurrent infections Cerebellar atrophy Atrial septal defect Fever Peripheral neuropathy Visual impairment Neoplasm Nystagmus Pain Abnormality of the sternum Increased arm span Hallux valgus Generalized tonic-clonic seizures Hip dislocation Skin rash Abnormal pyramidal sign Paralysis Congenital hip dislocation Delayed gross motor development Myoclonus Hyperlordosis Excessive wrinkled skin Subcutaneous hemorrhage Dystonia Behavioral abnormality Dysarthria Hyperreflexia Brachydactyly Cognitive impairment Abnormality of the cerebral white matter Gastroesophageal reflux Aortic rupture Psychosis Prolonged neonatal jaundice Athetosis Dysphonia Schizophrenia Clumsiness Progressive neurologic deterioration Intention tremor Intellectual disability, profound Retinal degeneration Spastic tetraplegia Oligohydramnios Neuronal loss in central nervous system Chorea Tetraplegia Ascites Sleep disturbance Cirrhosis Frontal bossing Abnormal eye morphology Loss of speech High pitched voice Abnormal form of the vertebral bodies Patent ductus arteriosus Myopathy Cardiomyopathy Abnormality of the metaphysis Abnormality of dental enamel Abnormality of the voice Sensorineural hearing impairment Hyperkeratosis Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Severe hydrops fetalis Hyperthyroidism Communicating hydrocephalus Coronal craniosynostosis Shallow orbits Elevated serum creatine phosphokinase Abnormality of the ribs Hydrocephalus Easy fatigability High-frequency sensorineural hearing impairment Keloids Follicular hyperkeratosis Difficulty climbing stairs Disproportionate tall stature Congenital muscular dystrophy Poor suck Poor head control Microdontia Craniosynostosis Severe muscular hypotonia Hypotelorism Sloping forehead Waddling gait Microcornea Delayed eruption of teeth Muscular dystrophy Neurofibrillary tangles Trismus Cervical spine instability Cellulitis Rheumatoid arthritis Long face Leukocytosis Smooth philtrum Arthrogryposis multiplex congenita Dolichocephaly Small for gestational age Abnormal cardiac septum morphology Overgrowth Retrognathia Brachycephaly Peritonitis Juvenile rheumatoid arthritis Ventricular septal defect Ptosis Abnormal thrombocyte morphology Membranous ventricular septal aneurysm Syncope Mitral regurgitation Hyperextensibility of the knee Celiac disease Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Graves disease Broad face Long palpebral fissure Turricephaly Tall stature Reduced subcutaneous adipose tissue Decreased muscle mass Recurrent skin infections Patent foramen ovale Atrioventricular block Aortic regurgitation Joint contracture of the hand Exotropia Premature birth following premature rupture of fetal membranes Subcutaneous spheroids Head tremor Fetal ascites Recurrent gram-negative bacterial infections Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Rapid neurologic deterioration Asthma Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Retinal detachment Inflammatory abnormality of the skin Hyperextensibility at elbow Eczematoid dermatitis Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Molluscoid pseudotumors Narrow maxilla Premature rupture of membranes Cigarette-paper scars Lop ear Rectal prolapse Recurrent urinary tract infections Generalized joint laxity Rectal abscess Decreased platelet glycoprotein IIb-IIIa Severe periodontitis Abnormal granulocyte morphology Aortic aneurysm Recurrent staphylococcal infections Infantile muscular hypotonia Generalized hypopigmentation of hair


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