Muscle weakness, and Severe short stature

Diseases related with Muscle weakness and Severe short stature

In the following list you will find some of the most common rare diseases related to Muscle weakness and Severe short stature that can help you solving undiagnosed cases.


Top matches:

Medium match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Medium match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

Low match STIFF SKIN SYNDROME


Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

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Other less relevant matches:

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Low match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Low match SHELDON-HALL SYNDROME


Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Low match JUVENILE PAGET DISEASE


Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Low match TMEM165-CDG


TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Muscle weakness and Severe short stature

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Sensorineural hearing impairment Hypertension Peripheral neuropathy Midface retrusion Intellectual disability Generalized hypotonia Nystagmus Failure to thrive Retinal degeneration Seizures Myopathy Microcephaly High palate Talipes equinovarus Hearing impairment Elevated serum creatine phosphokinase Malar flattening Waddling gait Skeletal dysplasia Kyphosis Coxa vara Osteoporosis Pain Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Genu varum Limitation of joint mobility Retinal detachment Narrow chest Glaucoma Osteoarthritis Congenital contracture Abnormal form of the vertebral bodies Growth hormone deficiency Hypertelorism Downslanted palpebral fissures Abnormality of the musculature Subcutaneous nodule Abnormality of the skeletal system Long philtrum Camptodactyly of finger Congestive heart failure Camptodactyly Respiratory tract infection Rhizomelia Arthritis Cognitive impairment Joint stiffness Platyspondyly Wide nasal bridge Ataxia Abnormality of the foot Arthralgia Micrognathia Cataract Spasticity Epicanthus Short neck Strabismus Gait disturbance Hip dislocation Spondyloepiphyseal dysplasia Motor delay Macrocephaly Optic atrophy Flattened epiphysis Respiratory failure Retinopathy Pectus carinatum Posteriorly rotated ears Congenital hip dislocation Thrombocytopenia Proximal muscle weakness Pigmentary retinopathy Barrel-shaped chest Abnormality of the clavicle Hyperphosphatemia Pneumonia Postnatal microcephaly Abnormality of the dentition Vertebral compression fractures Rough bone trabeculation Hoarse voice Shock Sacral dimple Epiphyseal dysplasia Metaphyseal dysplasia Protruding tongue Amelogenesis imperfecta Broad neck Premature skin wrinkling Beaking of vertebral bodies Toenail dysplasia Lower limb pain Anterior pituitary hypoplasia Diaphyseal dysplasia Unexplained fevers Muscular hypotonia Cranial hyperostosis Absent phalangeal crease Cleft palate Brachycephaly Scarring Ankylosis Fever Premature loss of teeth Severe sensorineural hearing impairment Hyperuricemia Hydroxyprolinemia Abnormal facial shape Thickened calvaria Hyperostosis Hydroxyprolinuria Low-set ears Hepatomegaly Melanocytic nevus Hepatosplenomegaly Limb pain Elevated hepatic transaminase Joint laxity Abnormality of the cerebral white matter Depressed nasal ridge Elevated serum acid phosphatase Elevated alkaline phosphatase Macular scar Increased bone mineral density Abnormality of retinal pigmentation Bowing of the long bones Recurrent fractures Angioid streaks of the fundus Mutism Genu valgum Myopia Neonatal hypotonia Generalized myoclonic seizures Generalized muscle weakness Tetraplegia Lactic acidosis Ophthalmoplegia Dilated cardiomyopathy Developmental regression Hypertrophic cardiomyopathy Acidosis Spastic tetraplegia Myoclonus Dementia Babinski sign Arrhythmia Absent speech Dystonia Hypertonia Diarrhea Increased serum lactate Mitral regurgitation Blindness Ketonuria Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Left ventricular noncompaction Preeclampsia Leukodystrophy Ketosis Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Exercise intolerance Vomiting Cardiomyopathy Respiratory distress Flat face Sleep apnea Abnormality of epiphysis morphology Abnormality of the metaphysis Abnormal lung morphology Lumbar hyperlordosis High myopia Limb undergrowth Pulmonary hypoplasia Paresthesia Back pain Micromelia Prominent nasolabial fold Broad forehead Autoimmunity Hyperlordosis Apnea Polydactyly Hernia Growth abnormality Bowing of the legs Dysphagia Limited hip movement Hyperreflexia Visual impairment Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Cervical myelopathy Vestibular dysfunction Limited elbow movement Myelopathy Ovoid vertebral bodies Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Round ear Webbed neck Ulnar deviation of the wrist Interphalangeal joint contracture of finger Lipodystrophy Nephrolithiasis Thickened skin Hypertrichosis Type II diabetes mellitus Paralysis Congenital miosis Mild short stature Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Increased muscle fatiguability Miosis Abnormal thrombocyte morphology Stroke-like episode Ectopia lentis Decreased muscle mass Asplenia Cryptorchidism Micropenis Hypogonadism Rod-cone dystrophy Alopecia Obesity Cerebellar atrophy Frontal bossing Entrapment neuropathy Multiple lipomas Stiff skin Lack of skin elasticity Abnormality of lipid metabolism Impaired pain sensation Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Dyslexia Mitochondrial myopathy Hypothyroidism Sclerotic vertebral endplates Fatigue Anemia Enlarged metacarpophalangeal joints Morbus Scheuermann Enlargement of the proximal femoral epiphysis Enlarged interphalangeal joints Decreased cervical spine mobility Enlarged epiphyses Headache Methylmalonic acidemia Synovitis Abnormality of the knee Juvenile rheumatoid arthritis Joint swelling Arthropathy Rheumatoid arthritis Short long bone Dilatation Subarachnoid hemorrhage Abnormal bleeding Abnormality of coagulation Purpura Hypocalcemia Epistaxis Hypotelorism Prominent nose Migraine Bruising susceptibility High forehead Ichthyosis Limb muscle weakness Neurological speech impairment Stroke Skin rash Myalgia Deeply set eye Gait ataxia Hypoglycemia Ulnar deviation of the hand or of fingers of the hand Facial palsy Triangular face Talipes Facial asymmetry Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Cleft lip Narrow face Mandibular prognathia Narrow mouth Feeding difficulties Sinus tachycardia Vertical nystagmus Metaphyseal cupping Thoracic scoliosis Metaphyseal widening Bilateral single transverse palmar creases Short femoral neck Tarsal synostosis Calcaneovalgus deformity Overlapping fingers Trismus Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the hip bone Abnormality of the ear Short chin Vertebral segmentation defect Mildly elevated creatine phosphokinase Multiple joint contractures Metatarsus adductus Rocker bottom foot Adducted thumb Narrow palpebral fissure Generalized amyotrophy Metaphyseal irregularity Pallor Thick eyebrow Horizontal nystagmus Gynecomastia Long eyelashes Clumsiness Sparse scalp hair Hypoplasia of penis Progressive cerebellar ataxia Distal amyotrophy Sensory axonal neuropathy Peripheral axonal neuropathy Paraplegia Delayed puberty Spastic paraplegia Small for gestational age Distal muscle weakness Sparse hair Hypogonadotrophic hypogonadism Chorioretinal atrophy Decreased body weight Intellectual disability, severe Broad-based gait Peripheral demyelination Asthma Sensory neuropathy Congenital cataract Pes cavus Hyporeflexia Difficulty walking Retinal atrophy Central heterochromia Long eyebrows Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Progressive gait ataxia Stress/infection-induced lactic acidosis



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