Abnormality of the skeletal system, and Falls

Diseases related with Abnormality of the skeletal system and Falls

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Falls that can help you solving undiagnosed cases.


Top matches:

Low match ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD


A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Is also known as hyperactivity of childhood

Related symptoms:

  • Depressivity
  • Hyperactivity
  • Autism
  • Anxiety
  • Attention deficit hyperactivity disorder


SOURCES: OMIM MENDELIAN

More info about ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Low match FAMILIAL CORTICAL MYOCLONUS


Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.

Related symptoms:

  • Seizures
  • Ataxia
  • Fatigue
  • Myoclonus
  • Falls


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CORTICAL MYOCLONUS

Low match CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES


Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

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Other less relevant matches:

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13


Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 Is also known as myasthenic syndrome, congenital, with tubular aggregates 2|cmsta2

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

Low match BEST VITELLIFORM MACULAR DYSTROPHY


Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.

BEST VITELLIFORM MACULAR DYSTROPHY Is also known as bvmd|early-onset vitelliform macular dystrophy|best macular dystrophy|bmd|polymorphic vitelline macular degeneration|juvenile-onset vitelliform macular dystrophy|vitelliform macular dystrophy type 2|best disease|vitelliform macular dystrophy, early-onset|

Related symptoms:

  • Visual impairment
  • Visual loss
  • Reduced visual acuity
  • Retinopathy
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about BEST VITELLIFORM MACULAR DYSTROPHY

Low match RENAL HYPODYSPLASIA/APLASIA 3; RHDA3


RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Hydronephrosis
  • Abnormality of the kidney
  • Falls
  • Vesicoureteral reflux
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 3; RHDA3

Low match RETINITIS PIGMENTOSA 3; RP3


X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

RETINITIS PIGMENTOSA 3; RP3 Is also known as rp15|retinitis pigmentosa 15|cone-rod degeneration, x-linked|choroidoretinal degeneration with retinal reflex in heterozygous women

Related symptoms:

  • Intellectual disability
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 3; RP3

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

Low match AROMATASE EXCESS SYNDROME


Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Falls

Symptoms // Phenotype % cases
Frequent falls Uncommon - Between 30% and 50% cases
Visual impairment Rare - less than 30% cases
Bilateral renal agenesis Rare - less than 30% cases
Unilateral renal agenesis Rare - less than 30% cases
Retinal dystrophy Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Falls. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Renal dysplasia Renal agenesis Intellectual disability, mild Progressive visual loss Intellectual disability Generalized hypotonia Muscle weakness Ataxia Fatigue Bilateral renal dysplasia Horseshoe kidney Nyctalopia Pallor Rod-cone dystrophy Abnormality of the kidney Vesicoureteral reflux Abnormality of the ribs Abnormality of the genitourinary system Multicystic kidney dysplasia Unilateral renal dysplasia Blindness Optic atrophy Myopia Muscular dystrophy Abnormality of the uterus Depressivity Peripheral visual field loss Retinal degeneration Short stature Isosexual precocious puberty Menstrual irregularities Decreased serum testosterone level Acne Precocious puberty Accelerated skeletal maturation Gynecomastia Hypogonadism Neoplasm Slurred speech Cone/cone-rod dystrophy Truncal ataxia Cerebellar hypoplasia Tremor Dysarthria Strabismus Dilatation of large choroidal vessels Retinal atrophy Abnormal retinal morphology Constriction of peripheral visual field Hydronephrosis Choroidal neovascularization Central serous chorioretinopathy Cognitive impairment Scoliosis Potter facies Redundant skin Pulmonary hypoplasia Centrally nucleated skeletal muscle fibers Myalgia Neonatal hypotonia Myopathy Cortical myoclonus Motor delay Loss of consciousness Myoclonus Seizures Dyslexia Impulsivity Attention deficit hyperactivity disorder Anxiety Autism Ptosis Difficulty walking Cystoid macular degeneration Scotoma Subretinal fluid Exudative retinal detachment Vitelliform-like macular lesions Metamorphopsia Choroideremia Hyperactivity Drusen Central scotoma Visual field defect Proximal muscle weakness Macular dystrophy Abnormality of color vision Abnormal electroretinogram Macular degeneration Retinal detachment Retinopathy Reduced visual acuity Visual loss Poor head control Breast hypertrophy



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