Abnormality of the skeletal system, and Pes planus

Diseases related with Abnormality of the skeletal system and Pes planus

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 45; MRX45


Related symptoms:

  • Intellectual disability
  • Short stature
  • High palate
  • Clinodactyly
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 45; MRX45

Low match HEIMLER SYNDROME 2; HMLR2


Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (OMIM ).

HEIMLER SYNDROME 2; HMLR2 Is also known as peroxisome biogenesis disorder 4c|pbd4c

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Talipes equinovarus
  • Pes planus
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HEIMLER SYNDROME 2; HMLR2

Low match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5


DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Low match MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4


Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Pain
  • Brachydactyly
  • Clinodactyly
  • Pes planus


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D


Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D Is also known as hmn iid|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|dhmn2d|neuropathy, distal hereditary motor, type iid

Related symptoms:

  • Pain
  • Skeletal muscle atrophy
  • Pes cavus
  • Pes planus
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Low match MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8


Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 Is also known as cmsppd|myasthenic syndrome, congenital, due to agrin deficiency|myasthenic syndrome, congenital, with pre- and postsynaptic defects

Related symptoms:

  • Muscle weakness
  • Ptosis
  • High palate
  • Respiratory insufficiency
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

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

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Spinal muscular atrophy Uncommon - Between 30% and 50% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases
Limb muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Intellectual disability

Rare Symptoms - Less than 30% cases


Clinodactyly High palate Babinski sign Hyporeflexia Areflexia Fasciculations Pain Seizures Global developmental delay Sensory impairment Ataxia Muscle cramps Proximal muscle weakness Difficulty walking Hammertoe Difficulty running Hearing impairment Abnormality of the foot Lower limb amyotrophy EMG: chronic denervation signs Tarsal synostosis Overlapping toe Decreased motor nerve conduction velocity Finger clinodactyly Carpal synostosis Weakness of the intrinsic hand muscles Progressive conductive hearing impairment Synostosis of carpals/tarsals Otosclerosis Broad foot Limb pain Myopathy Ankle weakness Mitochondrial myopathy Easy fatigability Diplopia Narrow chest Facial palsy Dyspnea Respiratory insufficiency Ptosis Bulbar signs Frontotemporal dementia Amyotrophic lateral sclerosis Decreased Achilles reflex Calf muscle hypertrophy Ragged-red muscle fibers Progressive muscle weakness Intention tremor Distal sensory impairment Dementia Elevated serum creatine phosphokinase Gait disturbance Tremor Triceps weakness Conductive hearing impairment Anteverted nares Brachydactyly Dental crowding Brisk reflexes Distal amyotrophy Distal muscle weakness Hypertonia Hyperreflexia Peripheral neuropathy Spasticity Leukonychia Taurodontia Hypoplasia of dental enamel Motor axonal neuropathy Bilateral sensorineural hearing impairment Talipes equinovarus Sensorineural hearing impairment Large hands Thick vermilion border Prominent nasal bridge Protruding ear Abnormality of the pinna Macrotia Limb hypertonia Upper limb muscle weakness Abnormally large globe Cleft palate Submucous cleft hard palate Flat occiput Bifid uvula Thin vermilion border Syndactyly Long philtrum Short stature Depressed nasal bridge Cognitive impairment Intellectual disability, moderate Hand muscle weakness Aggressive behavior Microcephaly Cold-induced hand cramps First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Peroneal muscle weakness Thenar muscle atrophy Lower limb hypertonia Type 2 muscle fiber atrophy



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