Short stature, and Generalized muscle weakness

Diseases related with Short stature and Generalized muscle weakness

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


Top matches:

Medium match HYPERKALEMIC PERIODIC PARALYSIS; HYPP


The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Medium match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

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Other less relevant matches:

Medium match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Medium match BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Medium match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Medium match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Medium match GITELMAN SYNDROME; GTLMNS


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Medium match CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Medium match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Short stature and Generalized muscle weakness

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Constipation Uncommon - Between 30% and 50% cases
Muscle cramps Uncommon - Between 30% and 50% cases
Hypercalciuria Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hypomagnesemia Myopathy Hypokalemia Pain Muscle weakness Intellectual disability Fever Vomiting Growth delay Polyhydramnios Dehydration Polyuria Renal salt wasting Alkalosis Chondrocalcinosis Seizures Metabolic alkalosis Increased circulating renin level Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hearing impairment Renal potassium wasting Hyperchloriduria Hypertension Talipes equinovarus Respiratory failure Motor delay High palate Respiratory insufficiency Diarrhea Hyperactive renin-angiotensin system Increased urinary potassium Hypochloremia Small for gestational age Paresthesia Premature birth Hypocalciuria Hyperaldosteronism Tetany Nephrocalcinosis Sensorineural hearing impairment Scoliosis

Rare Symptoms - Less than 30% cases


Ataxia Increased serum prostaglandin E2 Flexion contracture Muscular hypotonia Hypercalcemia Protruding ear Paralysis Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Fetal polyuria Hyperprostaglandinuria Abnormal facial shape Hyposthenuria Periodic paralysis Fatigue Arthritis Hyperkalemia Polydipsia Skeletal muscle atrophy Edema Triangular face Generalized amyotrophy Growth hormone deficiency Hypotension Nocturnal hypoventilation Muscle fiber necrosis Reduced vital capacity Respiratory arrest Hip contracture Spinal rigidity Increased variability in muscle fiber diameter Rigidity Congenital muscular dystrophy Elbow flexion contracture Waddling gait Muscular dystrophy Hyperlordosis Facial palsy Proximal muscle weakness Neonatal hypotonia Ventricular arrhythmia Tachycardia Congenital hip dislocation Prominent forehead Ophthalmoplegia Joint laxity Abnormality of the cerebral white matter Mildly elevated creatine phosphokinase Slender build Rickets Kyphoscoliosis Arrhythmia Abdominal pain Ankle contracture Respiratory insufficiency due to muscle weakness Osteopenia Cachexia Hyperparathyroidism Feeding difficulties Reduced tendon reflexes Erythema EMG: myopathic abnormalities Nephropathy Knee flexion contracture Scapular winging Calf muscle hypertrophy Nausea and vomiting Palpitations Delayed puberty Postural instability Confusion Vertigo Tented upper lip vermilion Nausea Poor suck Hyperhidrosis Anxiety Weak cry Chest pain Type 1 muscle fiber atrophy Flexion contracture of finger Anorexia Hypocalcemia Glomerulonephritis Kyphosis Polycythemia Hyperphosphatemia Cardiac arrest Abnormality of the retinal vasculature Abnormal choroid morphology Azotemia Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Arthralgia Inflammatory abnormality of the skin Round face Ventricular tachycardia Camptodactyly of finger Recurrent lower respiratory tract infections Recurrent respiratory infections Pectus excavatum Progressive proximal muscle weakness Renal magnesium wasting Difficulty climbing stairs Multiple joint contractures Salt craving Limb-girdle muscular dystrophy Follicular hyperkeratosis Micrognathia Abnormality of mitochondrial metabolism Cryptorchidism Torticollis Hip dislocation Ptosis Cardiac conduction abnormality Lissencephaly EMG abnormality Proximal amyotrophy Scarring Hyperkeratosis Rhabdomyolysis Increased laxity of fingers Hyperkinesis Pachygyria Decreased fetal movement Hyperextensibility at wrists Pulmonary hypoplasia Long face Blurred vision Prolonged QT interval Episodic fever Fatigable weakness of bulbar muscles Dilated cardiomyopathy Hyperventilation Feeding difficulties in infancy Enuresis Pollakisuria Hypovolemia Nocturia Joint stiffness Impaired mastication Type 1 muscle fiber predominance Cardiomyopathy Abnormality on pulmonary function testing Abdominal distention Hypophosphatemic rickets Renal phosphate wasting Low-set ears Peripheral neuropathy Ventriculomegaly Encephalopathy Hypoglycemia Malabsorption Unsteady gait Hepatic fibrosis Spinal canal stenosis Decreased liver function External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Bilateral talipes equinovarus Malnutrition Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Abnormality of the lower limb Osteomalacia Sensory ataxic neuropathy Lid lag on downgaze Microcephaly Clinodactyly Muscle stiffness Myotonia Skeletal muscle hypertrophy Loss of consciousness Ketosis Periodic hyperkalemic paralysis Episodic flaccid weakness Abnormality of the dentition Hypophosphatemia Craniosynostosis Dolichocephaly Carious teeth Genu valgum Delayed eruption of teeth Bone pain Coxa vara Elevated alkaline phosphatase Bowing of the legs Gastrointestinal dysmotility Macrocephaly Type 1 and type 2 muscle fiber minicore regions Cor pulmonale Poor head control Nasal speech Gowers sign High pitched voice Neck muscle weakness Hypoventilation Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Restrictive deficit on pulmonary function testing Ventricular hypertrophy Abnormality of the rib cage Axial muscle weakness Peroneal muscle atrophy Orthopnea Crackles Minicore myopathy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Progressive muscle weakness Limb muscle weakness Frontal bossing Gastroesophageal reflux Acidosis Macrotia Hyperthyroidism Abnormally large globe Impaired platelet aggregation Pseudohypoaldosteronism Strabismus Renal insufficiency Weight loss Stage 5 chronic kidney disease Arthrogryposis multiplex congenita Diabetes insipidus Parathyroid adenoma Parathyroid hyperplasia Nephrogenic diabetes insipidus Hepatomegaly Congestive heart failure Hyporeflexia Pneumonia Apnea Cough Increased laxity of ankles



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