Edema, and Muscular dystrophy

Diseases related with Edema and Muscular dystrophy

In the following list you will find some of the most common rare diseases related to Edema and Muscular dystrophy that can help you solving undiagnosed cases.


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Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E


Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

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Other less relevant matches:

Low match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Low match CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA


Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low 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

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Top 5 symptoms//phenotypes associated to Edema and Muscular dystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Limb-girdle muscular dystrophy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopathic facies Cardiomyopathy Skeletal muscle atrophy Muscular hypotonia Scoliosis Arrhythmia Respiratory failure Hyperlordosis Proximal muscle weakness Failure to thrive Hypogonadism Respiratory insufficiency Cryptorchidism Decreased fetal movement High palate Arthrogryposis multiplex congenita Peripheral neuropathy Limb muscle weakness Waddling gait Intellectual disability Stroke Fever Dysphagia Hepatomegaly Dilatation Progressive muscle weakness Neonatal hypotonia Myalgia Seizures Elevated serum creatine phosphokinase Motor delay

Rare Symptoms - Less than 30% cases


Congestive heart failure Increased variability in muscle fiber diameter Difficulty walking Hypertension Gowers sign Dilated cardiomyopathy Macroglossia Axial muscle weakness Myoglobinuria Hyporeflexia Anemia Malignant hyperthermia Feeding difficulties in infancy Congenital muscular dystrophy Respiratory arrest Abnormality of the cerebral white matter Facial palsy Rigidity Short stature Ptosis Cognitive impairment Respiratory distress Intellectual disability, severe Tachycardia Polyhydramnios Midface retrusion Low-set ears Cataract Myotonia Hypertelorism Shock Hypogonadotrophic hypogonadism Delayed puberty Global developmental delay Kyphoscoliosis Hydrops fetalis Hearing impairment Hypoventilation Gait disturbance Abnormality of the liver Generalized edema Pain Esophageal varix Thromboembolism Hyperkalemia Cholelithiasis Dehydration Ascites Delayed speech and language development Intercostal muscle weakness Atelectasis Sensory neuropathy Brain atrophy Premature birth Mitral valve prolapse Atrial fibrillation Insulin resistance Cardiac arrest Spontaneous abortion Intellectual disability, progressive Increased connective tissue Ventricular tachycardia Atrioventricular block Cerebral edema Astrocytosis Reduced ejection fraction Unsteady gait Abnormal cortical gyration Alzheimer disease Thin ribs Centrally nucleated skeletal muscle fibers Neurofibrillary tangles Abnormal EKG Heart block Facial diplegia Nonimmune hydrops fetalis Atrial flutter Testicular atrophy First degree atrioventricular block Frontal balding Excessive daytime sleepiness Thoracolumbar scoliosis Lower limb muscle weakness Muscle fiber necrosis Abnormality on pulmonary function testing Nocturnal hypoventilation Abnormality of the temporomandibular joint Orthopnea Crackles Hypointensity of cerebral white matter on MRI Peroneal muscle atrophy Inferior vermis hypoplasia Minicore myopathy Reduced vital capacity Abnormal brainstem MRI signal intensity Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Cardiac conduction abnormality Right ventricular hypertrophy Increased endomysial connective tissue Impaired mastication Absent muscle fiber merosin Abnormality of the rib cage Pontocerebellar atrophy Restrictive deficit on pulmonary function testing Cerebral atrophy Diffuse white matter abnormalities Muscle fiber atrophy Dementia Narcolepsy Mental deterioration Cor pulmonale Talipes Cerebral cortical atrophy Percussion myotonia Obsessive-compulsive trait Abnormality of the coagulation cascade Thoracic kyphosis Scaphocephaly Inability to walk Acute kidney injury Rhabdomyolysis Abnormality of the sternum Ventricular fibrillation Polymicrogyria Deep philtrum Focal-onset seizure Bradykinesia Pulmonary arterial hypertension Open mouth Pachygyria Heterotopia Low hanging columella Ophthalmoplegia Decreased body weight Congenital ptosis Mixed respiratory and metabolic acidosis Sinus tachycardia Ventriculomegaly Abnormality of metabolism/homeostasis Areflexia Long upper lip Cerebellar hypoplasia Hyperphosphatemia Gastroesophageal reflux Intellectual disability, moderate Diaphragmatic eventration Severe lactic acidosis Breech presentation Paralysis Hip dislocation Ventricular arrhythmia Sensorimotor neuropathy Ring fibers Abnormality of visual evoked potentials Hypokinesia Weak cry Protruding tongue Malar flattening Abnormality of the periventricular white matter Renal insufficiency Kyphosis Pes cavus Hypertonia Recurrent lower respiratory tract infections Downslanted palpebral fissures Epicanthus Myositis Abnormal facial shape Strabismus Pectus excavatum Hyperhidrosis Aspiration Respiratory insufficiency due to muscle weakness Congenital hip dislocation Lymphedema Absence seizures Lissencephaly Lumbar hyperlordosis Hypotension Webbed neck Poor suck Acidosis Abnormal bleeding Muscle cramps Metabolic acidosis Joint hypermobility Lactic acidosis Pectus carinatum Focal impaired awareness seizure Tachypnea Reduced number of teeth Neck muscle weakness Oral cavity bleeding Palpitations Distal muscle weakness Hypertrophic cardiomyopathy Osteoporosis Splenic rupture Bleeding with minor or no trauma Intramuscular hematoma Scapular winging Persistent bleeding after trauma Intraventricular hemorrhage Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Stomatitis Prolonged partial thromboplastin time Broad-based gait Calf muscle hypertrophy Abnormality of the elbow Talipes equinovarus Decreased liver function Hepatic fibrosis Sudden cardiac death Hepatic failure Cirrhosis Hepatosplenomegaly Dyspnea Reduced muscle fiber beta sarcoglycan Proximal amyotrophy Pelvic girdle muscle atrophy Calf muscle pseudohypertrophy Tip-toe gait Shoulder girdle muscle atrophy Pelvic girdle muscle weakness Achilles tendon contracture Limb-girdle muscle weakness Dyschromatopsia Joint swelling Reduced tendon reflexes Pericardial effusion Stomatocytosis Intermittent jaundice Gastritis Elliptocytosis Spherocytosis Increased serum ferritin Reticulocytosis Hyperbilirubinemia Antiphospholipid antibody positivity Hepatitis Hemolytic anemia Pallor Elevated hepatic transaminase Jaundice Splenomegaly Fatigue Hemoglobinuria Chronic hemolytic anemia Arthropathy Blindness Intracranial hemorrhage Osteoarthritis Gastrointestinal hemorrhage Hematuria Bruising susceptibility Arthritis Arthralgia Increased red cell hemolysis by shear stress Portal vein thrombosis Exercise-induced hemolysis Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Exercise intolerance Portal hypertension Hip contracture Scrotal hypoplasia Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Anophthalmia Anosmia Encephalocele Hypoplasia of teeth Choanal atresia Primary amenorrhea Dental malocclusion Broad nasal tip Hypoplasia of the maxilla Iris coloboma Synophrys Lacrimation abnormality Diastema Coloboma Generalized muscle weakness Spinal rigidity Generalized amyotrophy High pitched voice Nasal speech Poor head control Elbow flexion contracture Ventricular hypertrophy Cough Lacrimal duct stenosis Apnea Pneumonia Absent paranasal sinuses Aplasia of the nose Frontal encephalocele Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Corneal opacity Cleft lip Akinesia Hyperpigmentation of the skin Primary adrenal insufficiency Adrenal insufficiency Hyponatremia Precocious puberty Schizophrenia Azoospermia Accelerated skeletal maturation Asthma Adrenal hyperplasia Hypoglycemia Vomiting Limb joint contracture Tubulointerstitial fibrosis Fetal akinesia sequence Exertional dyspnea Difficulty climbing stairs Adrenal hypoplasia Renal salt wasting Micropenis Absence of pubertal development Inguinal hernia Hypospadias Hernia Microphthalmia Visual impairment Cleft palate Adrenocortical hypoplasia Congenital adrenal hypoplasia Oligospermia Abnormal spermatogenesis Congenital adrenal hyperplasia Decreased circulating aldosterone level Long penis Gonadotropin deficiency High-frequency hearing impairment Decreased circulating cortisol level Highly elevated creatine phosphokinase



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