Muscular hypotonia, and Carious teeth

Diseases related with Muscular hypotonia and Carious teeth

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

Top matches:

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

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

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Other less relevant matches:

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Carious teeth

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Motor delay Seizures Osteopenia Microcephaly Low-set ears Abnormal facial shape Delayed speech and language development Recurrent infections Hip dislocation Hypertelorism Downslanted palpebral fissures Midface retrusion Waddling gait Scoliosis Strabismus Myopia Intrauterine growth retardation Anteverted nares Short nose Long philtrum Postnatal growth retardation Feeding difficulties Abnormality of the skeletal system Hearing impairment

Rare Symptoms - Less than 30% cases

Poor speech High palate Dandy-Walker malformation Inguinal hernia Malar flattening Short neck Myopathy Frontal bossing Severe short stature Skeletal dysplasia Smooth philtrum Pachygyria Hyperlordosis Joint hypermobility Generalized muscle weakness Microdontia Flat face Microtia Pes planus Narrow mouth Posteriorly rotated ears High myopia Congenital hip dislocation Epicanthus Broad nasal tip Spasticity Infantile muscular hypotonia Muscle weakness Hepatomegaly Gait disturbance Elevated hepatic transaminase Difficulty walking Apraxia Sensorineural hearing impairment Muscle fiber atrophy Cutis laxa Small for gestational age Sparse hair Anemia Abnormality of the dentition Depressed nasal bridge Abnormal isoelectric focusing of serum transferrin Lipodystrophy Redundant skin Coarse hair Small nail Polymicrogyria Pain Nail dysplasia Hyporeflexia Hyperkeratosis Irritability Chorea Truncal ataxia Lower limb spasticity Steatorrhea Generalized-onset seizure Hip dysplasia Focal-onset seizure Hepatic steatosis Muscle cramps CNS hypomyelination Inability to walk Unsteady gait Abnormality of movement Congenital cataract Generalized tonic-clonic seizures Muscular dystrophy Scapular winging Hypoplastic distal radial epiphyses Limb-girdle muscular dystrophy Achalasia Intellectual disability, borderline Metaphyseal widening Right ventricular dilatation Alacrima Metaphyseal chondrodysplasia Recurrent ear infections Speech apraxia Esophagitis Gowers sign Neonatal respiratory distress Progressive proximal muscle weakness Restrictive ventilatory defect Short thorax Adrenal insufficiency Athetosis Attention deficit hyperactivity disorder Impulsivity Abnormality of the liver Cerebral white matter atrophy Thick hair Fragmented elastic fibers in the dermis Abnormality of the intrinsic pathway Thick cerebral cortex Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Psychomotor deterioration Excessive wrinkled skin Delayed closure of the anterior fontanelle Abnormal apolipoprotein level Redundant neck skin Generalized joint laxity Decreased muscle mass Emphysema Exocrine pancreatic insufficiency Ovoid vertebral bodies Lissencephaly Progressive microcephaly Subretinal pigment epithelium hemorrhage Ataxia Myalgia Absent speech Proximal muscle weakness Recurrent aphthous stomatitis EEG abnormality Cerebral cortical atrophy Brachycephaly Acute monocytic leukemia Constipation Elevated serum creatine phosphokinase Cerebral atrophy Acute myeloid leukemia Dystonia Cerebellar atrophy Fatigue Multiple lipomas Tremor Dysarthria Myeloid leukemia Cataract Abnormal levels of creatine kinase in blood Ptosis Exophoria Immunodeficiency High anterior hairline Respiratory distress Myocardial necrosis Intellectual disability, mild Periodontitis Heart block Epiphora Thrombocytopenia Osteolytic defects of the phalanges of the hand Psoriasiform dermatitis Scaling skin Osteolysis Coxa valga Delayed skeletal maturation Aortic valve stenosis Decreased body weight Cutaneous photosensitivity Neoplasm Onycholysis Respiratory tract infection Premature loss of permanent teeth Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Metaphyseal sclerosis Persistence of hemoglobin F Mitral valve calcification Proximal femoral metaphyseal irregularity Hip subluxation Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Expanded metacarpals with widened medullary cavities Aortic valve calcification Expanded phalanges with widened medullary cavities Shallow acetabular fossae Subvalvular aortic stenosis Cardiomegaly Pectus carinatum Expanded metatarsals with widened medullary cavities Anterior rib cupping Thin upper lip vermilion Nephrocalcinosis Recurrent bacterial infections Glaucoma Coxa vara Osteoporosis Pes cavus Recurrent respiratory infections Type I diabetes mellitus Arrhythmia Leukopenia Visual loss Congestive heart failure Talipes equinovarus Skeletal muscle atrophy Hypertension Myelodysplasia Joint laxity Bone marrow hypocellularity Leukemia Narrow sacroiliac notch Metaphyseal dysostosis Malabsorption Narrow chest Ichthyosis Proximal femoral epiphysiolysis Neutropenia Sepsis Specific learning disability Short ribs Eczema Pancytopenia Hypoplasia of the maxilla Abnormality of the metaphysis Genu valgum Decreased liver function Broad forehead Aplastic anemia Recurrent viral infections Elevated alkaline phosphatase Intellectual disability, profound Corneal ulceration Cleft palate Micrognathia Postural hypotension with compensatory tachycardia Decreased number of small peripheral myelinated nerve fibers Autoamputation of digits Neuropathic arthropathy Acral ulceration Palmar hyperkeratosis Abnormality of dental color Wide nasal bridge Hypotrichosis of the scalp Corneal scarring Pain insensitivity Lichenification Poor wound healing Recurrent corneal erosions Lack of skin elasticity Heat intolerance Cryptorchidism Hypoplasia of the corpus callosum Aseptic necrosis Wide intermamillary distance Confusion Feeding difficulties in infancy Hernia Ureterocele Broad neck Overfolded helix Scrotal hypoplasia Short palpebral fissure Microcornea Microphthalmia Tapered finger Short palm Blepharophimosis Abnormality of the pinna Low-set, posteriorly rotated ears Upslanted palpebral fissure Pectus excavatum Hypospadias Self-mutilation Episodic fever Wide anterior fontanel Pituitary hypothyroidism Pituitary dwarfism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Prolactin deficiency Anterior pituitary hypoplasia Gonadotropin deficiency Adrenocorticotropic hormone deficiency Panhypopituitarism Thoracic kyphosis Hypothalamic luteinizing hormone-releasing hormone deficiency Hypopituitarism Hyperextensible skin Increased body weight Cyanosis Growth hormone deficiency Jaundice Micropenis Kyphosis Lumbar kyphosis Peripheral neuropathy Impaired pain sensation Skin ulcer Bowel incontinence Osteomyelitis Anhidrosis Keratitis Emotional lability Self-injurious behavior Opacification of the corneal stroma Abnormal autonomic nervous system physiology Thickened skin Fever Febrile seizures Decreased antibody level in blood Sensory neuropathy Nail dystrophy Corneal opacity Hyperactivity Hyperhidrosis Behavioral abnormality Large fontanelles Growth abnormality Dementia Metaphyseal irregularity Protuberant abdomen Osteomalacia Hyperparathyroidism Tibial bowing Femoral bowing Hypophosphatemia Bowing of the legs Flat occiput Rickets Delayed epiphyseal ossification Aminoaciduria Hypocalcemia Bone pain Hypoplasia of dental enamel Abnormality of the skin Recurrent fractures Delayed eruption of teeth Papule Premature loss of teeth Elevated circulating parathyroid hormone level Hypoplastic sacrum Bulging epiphyses Cerebellar hypoplasia Subperiosteal bone resorption Bulging of the costochondral junction Deformed rib cage Increased serum 1,25-dihydroxyvitamin D3 Secondary hyperparathyroidism Sparse bone trabeculae Enlargement of the ankles Abdominal wall muscle weakness Thin bony cortex Enlargement of the wrists Widely patent fontanelles and sutures Fibular bowing Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Alopecia universalis Alopecia totalis Alopecia Frontal balding Prominent supraorbital ridges High forehead Short distal phalanx of finger Long face Dolichocephaly Severe global developmental delay Wide mouth Developmental regression Deeply set eye Retrognathia Mandibular prognathia Small hand Diabetes mellitus Prominent forehead Clinodactyly Macrocephaly Brachydactyly Oxycephaly Severe intrauterine growth retardation Brittle hair Downturned corners of mouth Triangular face Clitoral hypoplasia High pitched voice Breast hypoplasia Hypoplastic pelvis Oligospermia Low hanging columella Disproportionate short stature Short finger Agenesis of permanent teeth Short femoral neck Cone-shaped epiphysis Short metacarpal Short metatarsal Relative macrocephaly Widely spaced teeth Azoospermia Pointed chin Gingival overgrowth Dental crowding Type II diabetes mellitus Prominent nose Irregular ossification at anterior rib ends


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