Muscular hypotonia, and Increased bone mineral density

Diseases related with Muscular hypotonia and Increased bone mineral density

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Other less relevant matches:

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency|vitamin d-dependent rickets, type 1b

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Related symptoms:

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Increased bone mineral density

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Increased bone mineral density. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Osteoporosis

Rare Symptoms - Less than 30% cases

Visual impairment Intellectual disability Spasticity Hypoplasia of the corpus callosum Cerebellar atrophy Muscle weakness Delayed speech and language development Kyphoscoliosis Hip dislocation Platyspondyly Nystagmus Hearing impairment Osteopenia Growth delay Failure to thrive Pectus excavatum Microcephaly Prominent forehead Cognitive impairment Frontal bossing Tibial bowing Deformed rib cage Bulging of the costochondral junction Bulging epiphyses Sparse bone trabeculae Enlargement of the ankles Enlargement of the costochondral junction Enlargement of the wrists Widely patent fontanelles and sutures Fibular bowing Difficulty standing Thin bony cortex Delayed epiphyseal ossification Hypophosphatemia Femoral bowing Talipes equinovarus Bowing of the legs Flat occiput Metaphyseal irregularity Rickets Elevated alkaline phosphatase Bone pain Recurrent fractures Difficulty walking Sensorineural hearing impairment Cataract Brisk reflexes Infantile muscular hypotonia Cleft palate Hypertonia Cerebral visual impairment Reduced tendon reflexes Hyperkeratosis pilaris Heat intolerance Curly hair Reduced bone mineral density Nevus Pulmonic stenosis Wide mouth Postnatal growth retardation Hypertrophic cardiomyopathy Hyperkeratosis Hyperhidrosis Abnormal heart morphology Cardiomyopathy EMG abnormality Proptosis Limitation of joint mobility Respiratory distress Craniofacial disproportion Advanced ossification of carpal bones Long upper lip Carpal synostosis Flared metaphysis Epiphyseal dysplasia Hyperextensible skin Cutis laxa Decreased body weight Blue sclerae Flat face Sparse hair Micrognathia Apraxia Status epilepticus Spastic tetraplegia Telecanthus Coloboma Kyphosis Motor delay Congenital cataract Microcornea Diffuse cerebellar atrophy Progressive spastic quadriplegia Opisthotonus Intellectual disability, progressive Progressive microcephaly Intellectual disability, profound Generalized myoclonic seizures Lower limb muscle weakness Tetraplegia Irritability Neonatal hypotonia Congenital sensorineural hearing impairment Cerebral atrophy Preauricular pit Albinism Flexion contracture Premature graying of hair Shallow orbits Osteopetrosis Blue irides Generalized hypopigmentation Posteriorly rotated ears Decreased muscle mass Narrow forehead Optic atrophy Generalized-onset seizure Hip dysplasia Abnormal cerebellum morphology Inability to walk Unsteady gait Dysmetria Poor speech EEG abnormality Macrocephaly Gait ataxia Cerebellar hypoplasia Anteverted nares Tremor Myopia Vertebral fusion Wide nasal bridge Dysarthria Hyperreflexia Abnormal facial shape Microphthalmia Hypertelorism Ataxia Thin metacarpal cortices Intraventricular hemorrhage Vertebral compression fractures Thoracic kyphosis Soft skin Syringomyelia Abnormality of the palpebral fissures


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