Generalized hypotonia, and Thin skin

Diseases related with Generalized hypotonia and Thin skin

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

High match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Other less relevant matches:

High match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

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

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Thin skin

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Intellectual disability Strabismus Postnatal growth retardation Prominent forehead Osteopenia Hernia Depressed nasal bridge Low-set ears Short stature Inguinal hernia Alopecia Failure to thrive Midface retrusion Cataract Reduced subcutaneous adipose tissue Motor delay Joint laxity Joint hyperflexibility Feeding difficulties Microcephaly Seizures Narrow mouth Sparse hair Muscle weakness Micrognathia Myopia Epicanthus Abnormal facial shape High palate Sparse and thin eyebrow Scarring Abnormality of the skeletal system Insulin resistance Lipodystrophy Myopathy Hyperextensible skin Abnormality of skin pigmentation Arachnodactyly Absent speech Dilatation Congestive heart failure Dental crowding Fine hair Blue sclerae Dermal translucency Joint hypermobility Protruding ear Wormian bones Hearing impairment Hypertelorism Cryptorchidism Broad forehead Sparse scalp hair Macrocephaly Abnormality of the dentition Triangular face Frontal bossing Delayed speech and language development Cutis laxa Nystagmus Progeroid facial appearance Pectus excavatum

Rare Symptoms - Less than 30% cases

Diabetes mellitus Generalized osteoporosis Myalgia Elevated hepatic transaminase Cleft palate Hyperkeratosis Prematurely aged appearance Narrow nose Arrhythmia Elevated serum creatine phosphokinase Hepatomegaly Wide nasal bridge Acanthosis nigricans Splenomegaly Proptosis Atherosclerosis Hyperlipidemia Skeletal muscle atrophy Lipoatrophy Neurodevelopmental delay Epidermal acanthosis Delayed skeletal maturation Hypertension Pes planus Kyphoscoliosis Muscular dystrophy Hyperglycemia Ventricular fibrillation Joint stiffness Generalized muscle weakness Hyperlordosis Ventricular tachycardia Proximal muscle weakness Long eyelashes Sparse eyelashes Recurrent pneumonia Neonatal hypotonia Large fontanelles Bradycardia Rigidity Pectus carinatum High forehead Hypertriglyceridemia Vomiting Abnormal bleeding Bilateral talipes equinovarus Pyloric stenosis Bruising susceptibility Oligohydramnios Narrow nasal ridge Visual loss Talipes Blindness Spasticity Visual impairment Calcaneovalgus deformity Premature skin wrinkling Hyperreflexia Delayed cranial suture closure Short clavicles Adducted thumb Aortic regurgitation Anteverted nares Congenital cataract Retrognathia Hip dislocation Corneal opacity Decreased fetal movement Autism Intrauterine growth retardation Atypical scarring of skin Malar flattening Broad thumb Increased body weight Ectodermal dysplasia Dry skin Prominent nasal bridge Posteriorly rotated ears Brachycephaly Glaucoma Patent ductus arteriosus Atrophic scars Convex nasal ridge Wide cranial sutures Hyperinsulinemia Single transverse palmar crease Lens luxation Respiratory insufficiency Dermal atrophy Edema Spinal rigidity Kyphosis Prominent superficial veins Elbow flexion contracture Generalized lipodystrophy Joint dislocation Thin vermilion border Corneal dystrophy Severe short stature Retinal detachment Sepsis Bulbous nose High myopia Dental malocclusion Accelerated skeletal maturation Loss of subcutaneous adipose tissue in limbs Respiratory distress Gastrointestinal hemorrhage Microcornea Esotropia Narrow jaw Gait disturbance Dolichocephaly Tall stature Polyneuropathy Mitral valve prolapse Abnormality of metabolism/homeostasis Retinopathy Overgrowth Unsteady gait Conspicuously happy disposition Restlessness Narrow maxilla Short palm Short palpebral fissure Intellectual disability, profound Decreased testicular size Febrile seizures Nail dysplasia Prominent nose Sleep disturbance Downturned corners of mouth Wide nose Thick eyebrow Broad-based gait Long face Smooth philtrum Poor speech Facial asymmetry Abnormality of the foot Abnormality of the cerebral white matter Short philtrum Attention deficit hyperactivity disorder Camptodactyly Aggressive behavior Hemiparesis Microretrognathia Incomprehensible speech Broad hallux phalanx Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Conical tooth Short columella Drooling Self-mutilation Abnormality of the periventricular white matter Abnormality of digit Long nose Myopathic facies Overlapping toe Abnormality of dental morphology Relative macrocephaly Tented upper lip vermilion Oligodontia Joint contracture of the hand Progressive congenital scoliosis Spina bifida Thin clavicles Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Tremor Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Increased adipose tissue around the neck Respiratory failure Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Hematemesis Breast aplasia Broad distal phalanx of finger Hypoplasia of teeth Calcinosis Vertebral compression fractures Agenesis of corpus callosum Mandibular prognathia Down-sloping shoulders Mild short stature Hypoargininemia Polar cataract Corneal arcus Excessive wrinkled skin Overlapping fingers Severe failure to thrive Severe intrauterine growth retardation Subcapsular cataract Thin ribs Congenital glaucoma Multiple joint contractures Athetosis Macrotia Redundant skin Poor suck Hyperammonemia Opacification of the corneal stroma Congenital hip dislocation Wide anterior fontanel Hypotelorism Underdeveloped nasal alae Distal amyotrophy Blepharophimosis Difficulty walking Umbilical hernia Osteolytic defects of the phalanges of the hand Insulin-resistant diabetes mellitus Hyperbilirubinemia Generalized joint laxity Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Subcutaneous hemorrhage Bladder diverticulum Aortic dissection Molluscoid pseudotumors Soft skin Aortic root aneurysm Keratoconus Slender finger Abnormality of the hip bone Disproportionate tall stature Heart murmur Aortic aneurysm Intracranial hemorrhage Torticollis Spina bifida occulta Arterial rupture Spontaneous rupture of the globe Premature loss of teeth Nephrotic syndrome Arthropathy Hypermelanotic macule High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Osteolysis Hyperpigmentation of the skin Abnormality of the cardiovascular system Neoplasm Abnormality of the skin Round face Full cheeks Short distal phalanx of finger Delayed puberty Hypotrichosis Nail dystrophy Paralysis Abnormality of the kidney Hypospadias Short nose Pain Anxiety Distal muscle weakness Thin upper lip vermilion Hypoglycemia Postnatal microcephaly Inflammatory abnormality of the skin Hypsarrhythmia Cyanosis Tetraplegia Neutropenia Ichthyosis Dilated cardiomyopathy Apnea Cerebral cortical atrophy Severe muscular hypotonia Renal insufficiency Cardiomyopathy Cognitive impairment Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Aspiration Leukopenia Lymphangioma Adactyly Hypermetropia Microtia Telecanthus Abnormality of the nervous system Skeletal dysplasia Abnormality of cardiovascular system morphology Intellectual disability, mild Short neck Aplasia of the fingers Abnormal isoelectric focusing of serum transferrin Sacral dimple Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Myocarditis Epileptic spasms Microcytic anemia Abnormality of coagulation Erythroderma Phthisis bulbi Band keratopathy Pulmonic stenosis Spinal canal stenosis Leukemia Nyctalopia Mental deterioration Cerebral atrophy Cerebellar atrophy Hydrocephalus Ventriculomegaly Ataxia Small foramen magnum Brisk reflexes Polymicrogyria Unilateral renal agenesis Spontaneous abortion Autistic behavior Premature loss of primary teeth Fragile nails Widely spaced teeth Microdontia Abnormal cardiac septum morphology Abnormal heart morphology Syndactyly Retinal degeneration Vesicoureteral reflux Macular hypoplasia Occipital encephalocele Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Acute lymphoblastic leukemia Aplasia cutis congenita Absent septum pellucidum Progressive visual loss Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Macular degeneration Horizontal nystagmus Narrow face Abnormality of the hair Pachygyria Encephalocele Narrow chest Flat face Hyperactivity Skeletal muscle hypertrophy Supraventricular tachycardia Progressive proximal muscle weakness Protuberant abdomen IgA deficiency Secondary amenorrhea Prolonged QT interval Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Failure to thrive in infancy Ileus Prominent supraorbital ridges Polycystic ovaries Ventricular arrhythmia Reduced bone mineral density Delayed gross motor development Pancreatitis Recurrent bacterial infections Exercise intolerance Pointed chin Muscle stiffness Exercise-induced myalgia Prolonged QTc interval Atrial fibrillation Muscle mounding Hyperhidrosis Clinodactyly of the 5th finger Long philtrum Behavioral abnormality Intellectual disability, severe Downslanted palpebral fissures Brachydactyly Ptosis Adipose tissue loss Abnormality of skeletal muscle fiber size Atlantoaxial dislocation Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Dysmenorrhea Palpitations Ventricular hypertrophy Bifid uvula Curly hair Long toe Poor wound healing Small face Varicose veins Mild global developmental delay Periodontitis Gingivitis Genu recurvatum Proportionate short stature Bowing of the legs Forearm undergrowth Bilateral cryptorchidism Elbow dislocation Sparse eyebrow Radioulnar synostosis Coxa valga Aortic valve stenosis Bowing of the long bones Cutaneous photosensitivity Congenital diaphragmatic hernia Nevus Ulnar bowing Talipes equinovalgus Growth hormone deficiency Dysphagia Sudden cardiac death Hepatic steatosis Hirsutism Tachycardia Spastic paraplegia Hepatosplenomegaly Hypothyroidism Constipation Recurrent infections Palmoplantar cutis gyrata Absent earlobe Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Prominent superficial blood vessels


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