Short stature, and Paresthesia

Diseases related with Short stature and Paresthesia

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


Top matches:

Medium match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Medium match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Low match HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2


Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2

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Other less relevant matches:

Low match HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low 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

Low 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

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low 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

Top 5 symptoms//phenotypes associated to Short stature and Paresthesia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tetany Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Muscle cramps Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Paresthesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Paralysis Peripheral neuropathy Increased circulating renin level Hypokalemia Hypercalciuria Fatigue Hypomagnesemia Constipation Diarrhea Intellectual disability Vomiting Failure to thrive Generalized muscle weakness Depressivity Fever Global developmental delay Dehydration Nephrocalcinosis Ventricular arrhythmia Hyperphosphatemia Renal salt wasting Alkalosis Chondrocalcinosis Metabolic alkalosis Hypokalemic metabolic alkalosis Hypokalemic alkalosis Renal potassium wasting Anxiety Polyuria Hypochloremia Hypoparathyroidism Hearing impairment Hypocalcemia Basal ganglia calcification

Rare Symptoms - Less than 30% cases


Fetal polyuria Hyposthenuria Hyporeflexia Abdominal pain Increased urinary potassium Hypotension Hyperchloriduria Hyperactive renin-angiotensin system Hypocalciuria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Postural instability Sensory neuropathy Skeletal muscle atrophy Cleft palate Small for gestational age Hyperaldosteronism EMG abnormality Scapular winging Arthralgia Premature birth Triangular face Osteopenia Rhabdomyolysis Areflexia Polyhydramnios Narrow mouth Prominent forehead Growth delay Respiratory insufficiency Generalized hypotonia Polydipsia Rigidity Abnormal facial shape Laryngospasm Sensorineural hearing impairment Confusion Myopathy Generalized-onset seizure Alopecia Nephropathy Behavioral abnormality Congestive heart failure Hyperparathyroidism Cardiac arrest Hyperhidrosis Emotional lability Sensorimotor neuropathy Parkinsonism Abnormality of the cerebral white matter Motor axonal neuropathy Abnormality of movement Lower limb muscle weakness Impaired vibration sensation in the lower limbs Supraventricular tachycardia Sensory axonal neuropathy Left bundle branch block Hemolytic anemia Ventricular fibrillation Dyskinesia Personality changes Hallucinations Chorea Obsessive-compulsive behavior Sleep apnea Ventricular extrasystoles Memory impairment Bowel incontinence Bipolar affective disorder Neuronal loss in central nervous system Insomnia Atrial fibrillation Restlessness Involuntary movements Left ventricular hypertrophy Impaired pain sensation Personality disorder Acanthocytosis Palpitations Hypocalcemic seizures Cortical myoclonus Hypermagnesiuria Ataxia Hypertension Erythema Nausea and vomiting Delayed puberty Vertigo Nausea Tachycardia Inflammatory abnormality of the skin Abnormal pattern of respiration Ventricular tachycardia Hyperkinesis Blurred vision Prolonged QT interval Episodic fever Hyperventilation Enuresis Periodic paralysis Pollakisuria Hypovolemia Nocturia Renal magnesium wasting Writer's cramp Abnormal renal physiology Tics Blood group antigen abnormality Orofacial dyskinesia Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Abnormal facial expression Reduced consciousness/confusion Hyporeflexia of upper limbs Abnormality of the astrocytes Optic atrophy Dry skin Eczema Nephrolithiasis Abnormality of the nail Abnormality of the fingernails Increased intracranial pressure Reduced bone mineral density Fatigable weakness Irregular hyperpigmentation Dilated cardiomyopathy Parathyroid adenoma Mental deterioration Hoarse voice Upslanted palpebral fissure Deeply set eye Myalgia Blepharophimosis Finger syndactyly Facial asymmetry Bifid uvula Sensory impairment Hypotelorism Narrow face Syndactyly Narrow palpebral fissure Axonal degeneration Facial paralysis Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Febrile seizures Edema Brachial plexus neuropathy Abnormality of dental enamel Chronic mucocutaneous candidiasis Chronic fatigue Type I diabetes mellitus Cataract Abnormality of the dentition Irritability Generalized tonic-clonic seizures Delayed eruption of teeth Cerebral calcification Brittle hair Respiratory distress Abnormality of calcium-phosphate metabolism Congenital hypoparathyroidism Decreased circulating parathyroid hormone level Ptosis Low-set ears Flexion contracture Depressed nasal bridge Epicanthus Abnormality of the skeletal system Radial head subluxation Postnatal growth retardation Elevated hepatic transaminase Dysphagia Hypercalcemia Diabetes insipidus Parathyroid hyperplasia Nephrogenic diabetes insipidus Cognitive impairment Anemia Hepatomegaly Dysarthria Gait disturbance Cardiomyopathy Protruding ear Hypertonia Dystonia Splenomegaly Cerebral atrophy Elevated serum creatine phosphokinase Babinski sign Dementia Dyspnea Hepatosplenomegaly Stage 5 chronic kidney disease Gastroesophageal reflux Hypoglycemia Sleep disturbance Macrocephaly Frontal bossing Diabetes mellitus Acidosis Macrotia Acrocyanosis Sprengel anomaly Round face Polyneuropathy Hyperkalemia Weight loss Hyperthyroidism Neurological speech impairment Abnormally large globe Impaired platelet aggregation Pseudohypoaldosteronism Distal sensory impairment Distal muscle weakness Strabismus Renal insufficiency Salt craving



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