Cryptorchidism, and Limb-girdle muscular dystrophy

Diseases related with Cryptorchidism and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.


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High 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

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

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Other less relevant matches:

Medium 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

Medium match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Medium match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Medium match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Medium 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Intellectual disability Micropenis Abnormal facial shape Hypertelorism High palate Flexion contracture Seizures Muscle weakness Growth delay Proximal muscle weakness Respiratory insufficiency Hearing impairment Congenital adrenal hypoplasia Strabismus Neonatal hypotonia Short stature Cerebellar hypoplasia Adrenal hypoplasia Respiratory failure Adrenal insufficiency Congenital muscular dystrophy Hypospadias Delayed puberty Midface retrusion Elevated serum creatine phosphokinase Hypogonadism Cleft palate Limb muscle weakness

Rare Symptoms - Less than 30% cases


Diabetes mellitus Severe muscular hypotonia Cognitive impairment Hydronephrosis Acidosis Frontal bossing Failure to thrive Malar flattening Hypoplasia of the corpus callosum Agenesis of corpus callosum Postnatal growth retardation Adrenocortical hypoplasia Areflexia Primary adrenal insufficiency Hyperlordosis Facial palsy Hydrocephalus Generalized muscle weakness Hyperpigmentation of the skin Lumbar hyperlordosis Shock Dandy-Walker malformation Dilatation Renal cyst Decreased fetal movement Hypoglycemia Vomiting Small for gestational age Short nose Intrauterine growth retardation Multiple joint contractures Hypogonadotrophic hypogonadism Feeding difficulties Joint laxity Respiratory insufficiency due to muscle weakness Weak cry Metabolic acidosis Pectus excavatum Microcephaly Encephalocele Centrally nucleated skeletal muscle fibers Primary amenorrhea Depressed nasal bridge Epicanthus Ptosis Cataract Ventriculomegaly Motor delay Macroglossia Macrocephaly Pigmentary retinopathy Ventricular hypertrophy Epiphyseal dysplasia Muscular hypotonia Sensorineural hearing impairment Abnormal elasticity of skin Gastrostomy tube feeding in infancy Minicore myopathy Cerebellar vermis hypoplasia Open mouth Left ventricular hypertrophy Skeletal muscle hypertrophy Calf muscle hypertrophy Delayed skeletal maturation Respiratory tract infection Abnormality of the cerebral white matter Metaphyseal cupping Bilateral cryptorchidism Hypercalcemia Hypercalciuria Metaphyseal dysplasia Short long bone Nephrocalcinosis Hypocalcemia Abnormality of the genital system Bilateral sensorineural hearing impairment Growth hormone deficiency Hip dislocation Myopia Intellectual disability, severe Micromelia Hyporeflexia Abnormal heart morphology Cerebral cortical atrophy Craniosynostosis Prominent forehead Retinopathy Abnormality of the periventricular white matter Progressive muscle weakness Left ventricular systolic dysfunction Abnormal bleeding Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Lymphedema Hypotension Webbed neck Muscle cramps Abnormality of the coagulation cascade Joint hypermobility Tachycardia Lactic acidosis Arthrogryposis multiplex congenita Pectus carinatum Stroke Myalgia Ventricular fibrillation Myopathic facies Kyphoscoliosis Hyperphosphatemia Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Low hanging columella Hyperkalemia Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Rigidity Hyperhidrosis Skeletal muscle atrophy Hirsutism Congenital hip dislocation Narrow face Insulin resistance Generalized joint laxity Clumsiness Atrial fibrillation Waddling gait Long face Hyperinsulinemia Lower limb muscle weakness Ophthalmoplegia Dilated cardiomyopathy Muscular hypotonia of the trunk Osteopenia Cardiomyopathy Dysphagia Infantile muscular hypotonia Hyperglycemia Pes cavus Postprandial hyperglycemia Arrhythmia Renal insufficiency Kyphosis Hypertonia Downslanted palpebral fissures Fever Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Glucose intolerance Abnormal glucose tolerance Limb joint contracture Nemaline bodies Insulin-resistant diabetes mellitus Difficulty running Glycosuria Bulbar palsy Pes valgus Coma Follicular hyperkeratosis Severe global developmental delay Micrognathia Wide nasal bridge Anteverted nares Short neck Long philtrum Immunodeficiency Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Brachycephaly High forehead Feeding difficulties in infancy Leukemia Generalized tonic-clonic seizures Nystagmus Wide nose Generalized myoclonic seizures Amenorrhea Oligohydramnios Ambiguous genitalia Intellectual disability, profound Sarcoma Myelodysplasia Nephroblastoma Bifid scrotum Combined immunodeficiency Acute lymphoblastic leukemia Severe intrauterine growth retardation Multiple renal cysts Neoplasm Absent paranasal sinuses Mild microcephaly Choanal atresia Visual impairment Edema Microphthalmia Hernia Inguinal hernia Cleft lip Coloboma Corneal opacity Synophrys Iris coloboma Hypoplasia of the maxilla Broad nasal tip Dental malocclusion Scrotal hypoplasia Aplasia of the nose Anosmia Reduced number of teeth Anophthalmia Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Acute leukemia Short sternum Overweight Ketoacidosis Gonadotropin deficiency Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia Abnormal spermatogenesis Absence of pubertal development Osteoporosis Lethargy Downturned corners of mouth Hypertriglyceridemia Hyperlipidemia Loss of consciousness Pathologic fracture Episodic vomiting Decreased circulating cortisol level Increased urinary glycerol Hyperglycerolemia Delayed speech and language development Recurrent respiratory infections Hyperkeratosis Gastroesophageal reflux Dry skin EMG: myopathic abnormalities Poor head control Congenital contracture Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Spinal rigidity Neck muscle weakness High-frequency hearing impairment Oligospermia Rhabdomyosarcoma Cortical dysplasia Triangular mouth Cerebral hypoplasia Premature chromatid separation Embryonal rhabdomyosarcoma Hypodysplasia of the corpus callosum Spasticity Blindness Decreased testicular size Heterotopia Renal dysplasia Opacification of the corneal stroma Lissencephaly Hypoplasia of the brainstem Absent septum pellucidum Renal salt wasting Occipital encephalocele Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Asthma Dehydration Accelerated skeletal maturation Azoospermia Schizophrenia Precocious puberty Hyponatremia Adrenal hyperplasia Mixed respiratory and metabolic acidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Photophobia, related diseases and genetic alterations Downslanted palpebral fissures and Agenesis of corpus callosum, related diseases and genetic alterations Myopia and Renal insufficiency, related diseases and genetic alterations Spasticity and Growth hormone deficiency, related diseases and genetic alterations

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