Muscular hypotonia, and Hypotrichosis

Diseases related with Muscular hypotonia and Hypotrichosis

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

Top matches:

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

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

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Other less relevant matches:

Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

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

Low match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Alopecia

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hearing impairment Delayed skeletal maturation Postnatal growth retardation Severe short stature Sparse hair Sparse scalp hair Hip dislocation Hyperkeratosis Long philtrum Scoliosis Abnormality of the kidney Microcephaly Absent eyebrow Widely spaced teeth Keratitis Intellectual disability, severe Intrauterine growth retardation Cryptorchidism Failure to thrive Microdontia Corneal opacity Brachydactyly Short metacarpal Respiratory distress Clinodactyly of the 5th finger Ataxia Ventricular septal defect Cleft palate Nail dystrophy Feeding difficulties Recurrent infections Pain Hydronephrosis Abnormality of the dentition Eczema

Rare Symptoms - Less than 30% cases

Round face Short phalanx of finger Accelerated skeletal maturation Short clavicles Abnormal eyelash morphology Micrognathia Thick vermilion border Diabetes mellitus Abnormality of the skeletal system Ectodermal dysplasia Ichthyosis Recurrent respiratory infections Macrotia Single transverse palmar crease Pectus carinatum Synophrys Abnormality of the nail Abnormal facial shape Hypoplastic nipples Depressed nasal bridge Hydroureter Anteverted nares Obesity Convex nasal ridge Smooth philtrum Proptosis Pes planus Joint laxity Low-set, posteriorly rotated ears Erythroderma Camptodactyly of finger Erythema Dental malocclusion Delayed eruption of teeth Overfolded helix Short palm Full cheeks Specific learning disability Thick lower lip vermilion Broad-based gait Abnormality of epiphysis morphology Edema Wide mouth Hypertension Frontal bossing Strabismus Osteolysis Abnormal hair pattern Broad distal phalanx of finger Cerebral cortical atrophy Scarring Epidermal acanthosis Abnormal heart morphology Upslanted palpebral fissure Fine hair Camptodactyly Short metatarsal Cone-shaped epiphysis Thin eyebrow Hypospadias Autism Dilatation Flexion contracture Short nose Abnormality of cardiovascular system morphology Hernia Osteoporosis Brachycephaly Small for gestational age Clubbing of toes Muscle weakness Desquamation of skin soon after birth Vomiting Hepatomegaly Developmental regression Inflammatory abnormality of the skin Lactic acidosis Abnormality of the nervous system Perioral eczema Nail dysplasia Keratoconjunctivitis Metabolic acidosis Organic aciduria Hyperventilation Hyperammonemia Skin rash Corneal scarring Lethargy Myopia Carious teeth Skin ulcer Acidosis Conjunctivitis Heat intolerance Feeding difficulties in infancy Hyperhidrosis Opacification of the corneal stroma Irritability Hypertonia Coma Recurrent skin infections Tachypnea Recurrent corneal erosions Aciduria Sensorineural hearing impairment Urticaria Narrow nose Insulin-resistant diabetes mellitus Down-sloping shoulders Premature loss of teeth Arthropathy Prematurely aged appearance Osteolytic defects of the phalanges of the hand Calcinosis Progeroid facial appearance Spinal rigidity Prominent superficial veins Vertebral compression fractures Limb-girdle muscle atrophy Hypoplasia of teeth Acroosteolysis of distal phalanges (feet) Prominent forehead Cerebral atrophy Wide nasal bridge Epicanthus Ptosis Hypertelorism Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Foot pain Narrow nasal ridge Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Hypermelanotic macule Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Reduced subcutaneous adipose tissue Decreased biotinidase activity Delayed cranial suture closure Midline skin dimples over anterior/posterior fontanelles Nausea and vomiting Paralysis Joint stiffness Proximal muscle weakness Rigidity Retrognathia Narrow mouth Myopathy High palate Cataract Neoplasm Hypoplasia of the primary teeth Delayed puberty Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Muscular dystrophy Abnormality of skin pigmentation High pitched voice Acanthosis nigricans Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Hyperglycemia Congenital muscular dystrophy Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Wormian bones Short distal phalanx of finger Increased body weight Hyperpigmentation of the skin Insulin resistance Dental crowding Large fontanelles Thin skin Hypertriglyceridemia Nephrotic syndrome Abnormality of the cardiovascular system Abnormality of the skin Sepsis Conductive hearing impairment Bifid uvula Weight loss Abnormality of dental enamel Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Intestinal obstruction Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Scaling skin Abnormality of the hand Plagiocephaly Recurrent bacterial infections Oligodactyly Hemivertebrae Multicystic kidney dysplasia Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Ectrodactyly Submucous cleft hard palate Brain atrophy Abnormality of the upper urinary tract Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Cheilitis Uveitis Alopecia universalis Oxycephaly Alopecia totalis Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Blepharitis Alopecia of scalp Parakeratosis Postaxial hand polydactyly Palmoplantar keratoderma Coloboma Palmoplantar hyperkeratosis Retinal coloboma Long foot Acute leukemia Acute lymphoblastic leukemia Increased number of teeth Transposition of the great arteries Decreased fertility Large for gestational age Abnormality of dental morphology Large hands Brittle hair Growth abnormality Abnormality of the outer ear Aplasia/Hypoplasia of the nipples Abnormal dermatoglyphics Joint contracture of the hand Tall stature Depressed nasal ridge Tetralogy of Fallot Webbed neck Aplasia cutis congenita of scalp Hypodontia Short foot Thrombocytopenia Leukemia Short philtrum Peripheral pulmonary artery stenosis Ureteropelvic junction obstruction Postaxial polydactyly Agenesis of corpus callosum Pulmonary hypoplasia Dry skin Astigmatism Talipes Platyspondyly Papule Respiratory tract infection Mental deterioration Photophobia Umbilical hernia Polydactyly Dementia Cerebellar hypoplasia Aplastic clavicle Inguinal hernia Microphthalmia Immunodeficiency Kyphosis Hypoplasia of the corpus callosum Ventriculomegaly Nystagmus Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Violent behavior Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the hand Duplicated collecting system Skin dimples Agenesis of permanent teeth Abnormal vagina morphology Paraplegia Infantile muscular hypotonia Scapular winging Narrow palate Osteoarthritis Hypotrichosis of the scalp Abnormality of dental color Corneal ulceration Palmar hyperkeratosis Acral ulceration Bulbous nose Neuropathic arthropathy Spastic paraplegia Pain insensitivity Stroke Autoamputation of digits Protruding ear Hyperlordosis Thin upper lip vermilion Arthralgia Osteopenia Decreased number of small peripheral myelinated nerve fibers Hypogonadism Posteriorly rotated ears Postural hypotension with compensatory tachycardia Deep philtrum Short finger Dysarthria Abnormally low-pitched voice Aseptic necrosis Downslanted palpebral fissures Self-mutilation Lack of skin elasticity Poor wound healing Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Cone-shaped epiphyses of the middle phalanges of the hand Progressive spastic paraplegia Pear-shaped nose Thin nail Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Lichenification Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Spasticity Abnormality of the femoral neck or head region Absent speech Basal ganglia calcification Hirsutism Flat face Joint hyperflexibility Abnormal cerebellum morphology Narrow chest Generalized myoclonic seizures High myopia Stridor Visual field defect Glaucoma Infantile spasms Clinodactyly Apnea Pectus excavatum Bronchitis Iris hypopigmentation Short neck Diffuse cerebral atrophy Seborrheic dermatitis Macrocephaly Alcoholism Recurrent fungal infections Diffuse cerebellar atrophy Laryngeal stridor Small hand Visual loss Knee dislocation Acne Advanced ossification of carpal bones Toe clinodactyly Aplasia/Hypoplasia of the abdominal wall musculature Broad ribs Genu recurvatum Bell-shaped thorax Patellar dislocation Broad foot Optic atrophy Truncal obesity Short femoral neck Elbow dislocation Blue sclerae Epiphyseal dysplasia Metaphyseal widening Radioulnar synostosis Relative macrocephaly Disproportionate short-limb short stature Short long bone Diarrhea Coxa vara Coxa valga Splenomegaly Broad thumb Abnormality of the metaphysis Episodic fever Impaired pain sensation Lacrimation abnormality Abnormality of the liver Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Abdominal distention Hypoplasia of the maxilla Downturned corners of mouth Hepatic failure Anal atresia Malabsorption Dilated cardiomyopathy Abnormal cardiac septum morphology Cleft lip Anorexia Elevated hepatic transaminase Hypothyroidism Micropenis Congenital lactic acidosis Atrial septal defect Peripheral neuropathy Cardiomyopathy Fatigue Fever Anemia Cognitive impairment Growth hormone deficiency Hypoplasia of penis Prominent proximal interphalangeal joints Metabolic ketoacidosis Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypopituitarism Anteriorly placed anus Glycosuria Steatorrhea Cholestasis Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Situs inversus totalis Cafe-au-lait spot Behavioral abnormality Unilateral narrow palpebral fissure Bowel incontinence High, narrow palate Long eyelashes Febrile seizures Short palpebral fissure Thickened skin Status epilepticus Wide intermamillary distance Abnormal autonomic nervous system physiology Broad nasal tip Triangular face Highly arched eyebrow Everted lower lip vermilion Wide nose Absence seizures Thick eyebrow Thin vermilion border Poor speech Self-injurious behavior Blepharophimosis Emotional lability Autistic behavior Aggressive behavior Deeply set eye Coarse facial features Anhidrosis Osteomyelitis Low anterior hairline Joint dislocation Prominent interphalangeal joints Hyperactivity Prominent eyelashes Curly eyelashes Hyporeflexia Thick nasal alae Excessive wrinkled skin Eclabion Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Echolalia Narrow palpebral fissure Abnormality of finger Epileptic spasms Protruding tongue Narrow nasal bridge Dysphasia Aphasia Sensory neuropathy Abnormality of the metacarpal bones Mutism Drooling Decreased antibody level in blood Sandal gap Unilateral chest hypoplasia


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