Cryptorchidism, and Arthrogryposis multiplex congenita

Diseases related with Cryptorchidism and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.


Top matches:

High match ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A


In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013).The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009).Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal ArthrogryposesDistal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (OMIM ), caused by mutation in the MYBPC1 gene (OMIM ) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene (OMIM ) on chromosome 11p15.5, the TNNI2 gene (OMIM ), also on 11p15.5, or TPM2 (OMIM ) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 (OMIM ), caused by mutation in the PIEZO2 gene (OMIM ) on chromosome 18p11; DA4 (OMIM ); DA5D (OMIM ), caused by mutation in the ECEL1 gene (OMIM ) on chromosome 2q36; DA6 (OMIM ); DA7 (OMIM ), caused by mutation in the MYH8 gene (OMIM ) on chromosome 17p13.1; DA8 (OMIM ), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13; DA9 (OMIM ), caused by mutation in the FBN2 gene (OMIM ) on chromosome 5q23-q31; and DA10 (OMIM ), which maps to chromosome 2q.See {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310}).

ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A Is also known as arthrogryposis multiplex congenita, distal, type i|da1|amcd1|arthrogryposis, distal, type 1

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

High match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

High match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

High match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

High 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

High match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

High match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

High match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

High match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cryptorchidism and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


High palate Talipes equinovarus Talipes Kyphoscoliosis Short stature Hearing impairment Micrognathia Myopathy Ptosis Global developmental delay Hypertonia Epicanthus Muscular hypotonia Strabismus Hypertelorism Microcephaly Camptodactyly Kyphosis Congenital contracture Areflexia Long philtrum Myopathic facies Knee flexion contracture Adducted thumb Rocker bottom foot Pterygium Decreased fetal movement Wide nasal bridge Malignant hyperthermia Failure to thrive Blepharophimosis Downslanted palpebral fissures Hypospadias Facial palsy Telecanthus Proximal muscle weakness Hyporeflexia Muscular dystrophy Growth delay Low-set ears Motor delay Fever Respiratory insufficiency Joint contracture of the hand Hip dislocation Ulnar deviation of the hand or of fingers of the hand Cleft palate Distal arthrogryposis Short neck Pectus excavatum Deeply set eye Abnormality of the foot Hyperlordosis

Rare Symptoms - Less than 30% cases


Narrow mouth Neonatal hypotonia Congenital hip dislocation Open mouth Generalized muscle weakness Bilateral talipes equinovarus Hip contracture Distal muscle weakness Underdeveloped nasal alae Short nose Trismus Midface retrusion Hand clenching Ventriculomegaly Intellectual disability, profound Skeletal muscle atrophy Decreased hip abduction Elbow flexion contracture Single transverse palmar crease Limb muscle weakness Respiratory insufficiency due to muscle weakness Intellectual disability, severe Pes cavus Arrhythmia Malar flattening Abnormal facial shape Prominent nasal bridge Multiple joint contractures Peripheral demyelination Inguinal hernia Sensorineural hearing impairment Wide intermamillary distance Macrotia Cognitive impairment Nystagmus Micropenis Breech presentation Feeding difficulties Camptodactyly of finger Webbed neck Glaucoma Lumbar hyperlordosis Interphalangeal joint contracture of finger Abnormality of the rib cage Intellectual disability, mild Cataract Hypoplasia of the corpus callosum Spasticity Multiple pterygia Calf muscle pseudohypertrophy Neck flexor weakness Severe hydrops fetalis Transient myeloproliferative syndrome Slender build Type 1 muscle fiber predominance Mitochondrial depletion Late-onset distal muscle weakness Ataxia Alacrima Thin vermilion border Fetal akinesia sequence Congenital cataract Hypertension Peripheral neuropathy Hepatomegaly Myopia Muscular hypotonia of the trunk Osteoporosis Splenomegaly Cerebral calcification Constipation Agenesis of corpus callosum Myoclonus Nemaline bodies Cystic hygroma EMG: neuropathic changes Abnormality of the eye Overbite Flexion contracture of toe Abnormal auditory evoked potentials Prominent nose Shoulder flexion contracture Delayed myelination Whistling appearance Chin with H-shaped crease Dysarthria Dysphagia Edema Polyhydramnios Gliosis Apnea Neurodegeneration Hypogonadism Falls Inability to walk Waddling gait Frequent falls Large fontanelles Hirsutism Hydrops fetalis Foot dorsiflexor weakness EMG: myopathic abnormalities Akinesia Mildly elevated creatine phosphokinase Pericardial effusion Bulbar palsy Spinal rigidity Cerebellar hypoplasia Abnormal pyramidal sign Abdominal pain Atrophy/Degeneration affecting the brainstem Premature graying of hair Congenital nystagmus Hypopigmentation of hair Myelin outfoldings Neonatal asphyxia Long ear Hypoplasia of the cochlea Abnormal eyebrow morphology Blue irides Meconium ileus Miosis Peripheral hypomyelination Osteopetrosis Spotty hyperpigmentation Hypoplasia of the semicircular canal Heterochromia iridis Decreased lacrimation Cerebral dysmyelination Microcolon Abnormality of the ear White eyebrow White eyelashes Congenital muscular dystrophy Coxa valga White hair Demyelinating peripheral neuropathy White forelock Ileus Intestinal obstruction Portal hypertension Hepatosplenomegaly Aganglionic megacolon Abnormality of the nervous system Intestinal pseudo-obstruction Microphthalmia Hyperreflexia Distal amyotrophy Distal sensory impairment Hypopigmentation of the skin Spasmus nutans Coma Tetraplegia Long-segment aganglionic megacolon Spastic tetraplegia Dysmyelinating leukodystrophy Hypohidrosis Deep longitudinal plantar crease Leukodystrophy Sloping forehead Cutaneous photosensitivity Insulin resistance Abnormal autonomic nervous system physiology Spastic paraparesis Torticollis Neuronal loss in central nervous system Hypopigmented skin patches Anosmia CNS hypomyelination Absent brainstem auditory responses Decreased nerve conduction velocity Dimple chin Pectus carinatum Mask-like facies Constrictive median neuropathy Hyperactivity Autism Gastroesophageal reflux Anxiety Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Abnormality of the skeletal system Atrial septal defect Brachycephaly Conductive hearing impairment Long face Downturned corners of mouth Narrow forehead Short palpebral fissure Tented upper lip vermilion Gowers sign Ankle contracture Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Gait disturbance Abnormality of metabolism/homeostasis Hernia Behavioral abnormality Hydrocephalus Dolichocephaly Facial asymmetry Metatarsus adductus Spinal canal stenosis Overlapping fingers Calcaneovalgus deformity Ulnar deviation of the wrist Absent distal interphalangeal creases Stiff shoulders Syndactyly Clinodactyly of the 5th finger Protruding ear Retinopathy Finger syndactyly Ophthalmoplegia Abnormality of skin pigmentation Frontal bossing Triangular face Bifid uvula Limitation of joint mobility Dandy-Walker malformation Short phalanx of finger Abnormal vertebral morphology Overlapping toe Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Thoracolumbar scoliosis Down-sloping shoulders Camptodactyly of toe Macrocephaly Joint stiffness Narrow chest Hypoplasia of the brainstem Congenital ptosis Abnormality of the coagulation cascade Hyperkalemia Abnormality of the sternum Rhabdomyolysis Acute kidney injury Scaphocephaly Myoglobinuria Thoracic kyphosis Low hanging columella Hyperphosphatemia Severe lactic acidosis Respiratory arrest Diaphragmatic eventration Long upper lip Myotonia Sinus tachycardia Mixed respiratory and metabolic acidosis Cerebellar atrophy Prominent forehead Mandibular prognathia Arthritis Postnatal growth retardation Small for gestational age Flat face Dental malocclusion Abnormality of the skin Spina bifida occulta Nasal speech Rheumatoid arthritis Ventricular fibrillation Deep philtrum Hypoplasia of penis Elevated serum creatine phosphokinase Bilateral single transverse palmar creases Abnormality of the fingernails Severe muscular hypotonia Failure to thrive in infancy Spinal muscular atrophy Proximal placement of thumb Thickened nuchal skin fold Tongue fasciculations Degeneration of anterior horn cells Microphallus Skin dimples Proximal spinal muscular atrophy Renal insufficiency Dilatation Hyperhidrosis Ventricular arrhythmia Acidosis Rigidity Myalgia Stroke Lactic acidosis Tachycardia Joint hypermobility Metabolic acidosis Muscle cramps Abnormal bleeding Hypotension Lymphedema Shock Tachypnea Second metatarsal posteriorly placed



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Renal cell carcinoma, related diseases and genetic alterations Arthritis and Bruising susceptibility, related diseases and genetic alterations Depressed nasal bridge and Arthralgia, related diseases and genetic alterations Low-set ears and Retrognathia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more