Cryptorchidism, and Camptodactyly

Diseases related with Cryptorchidism and Camptodactyly

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


Top matches:

Medium 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

Medium match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Medium match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

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Other less relevant matches:

Medium match FREEMAN-SHELDON SYNDROME


Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP


Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Medium match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

Medium match WEAVER SYNDROME


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Camptodactyly

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Camptodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Camptodactyly of finger Ptosis Long philtrum Seizures Global developmental delay Scoliosis Intellectual disability Strabismus Abnormality of the dentition Wide nasal bridge Knee flexion contracture Abnormality of the foot Hernia Finger syndactyly Narrow mouth Single transverse palmar crease Joint stiffness Feeding difficulties in infancy Growth delay Microcephaly Hearing impairment

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Sensorineural hearing impairment Interphalangeal joint contracture of finger Abnormality of cardiovascular system morphology Intrauterine growth retardation Severe postnatal growth retardation Macrocephaly Failure to thrive Anteverted nares Round face Thin upper lip vermilion Deeply set eye Protruding ear Wide mouth Gastroesophageal reflux Feeding difficulties Hypoplasia of the corpus callosum Hypospadias Inguinal hernia Short phalanx of finger Dental crowding Broad thumb Epicanthus Broad forehead Clinodactyly Rocker bottom foot Cleft palate Congenital hip dislocation Distal arthrogryposis Micropenis Bilateral talipes equinovarus Arthrogryposis multiplex congenita Depressed nasal bridge Talipes Flexion contracture Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Dandy-Walker malformation Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Decreased muscle mass Overlapping toe Triangular mouth Thickened calvaria Generalized osteosclerosis Depressed nasal tip Pterygium Abnormal vertebral morphology Narrow naris Lumbar hyperlordosis Gingival overgrowth Large hands Cutaneous finger syndactyly Umbilical hernia Frontal bossing Abnormality of the skeletal system Short nose Midface retrusion Abnormality of the rib cage Severe short stature Proptosis High forehead Skeletal dysplasia Down-sloping shoulders Narrow nasal tip Conductive hearing impairment Thoracolumbar scoliosis Cleft lip Short distal phalanx of finger Submucous cleft hard palate Dental malocclusion Otitis media Overgrowth Limb undergrowth Mesomelic short stature Mandibular prognathia Otitis media with effusion Low-set, posteriorly rotated ears Macrotia Short neck High palate Abnormally low-pitched voice Deep-set nails Thin nail Broad foot Hypoplastic toenails Retrognathia Joint hyperflexibility Syndactyly Hypoplasia of penis Fine hair Abnormality of the metaphysis Tall stature Hoarse voice Abnormality of the fingernails Accelerated skeletal maturation Sandal gap Deep philtrum Intellectual disability, mild Pectus excavatum Muscular hypotonia Laryngomalacia Recurrent infections Redundant skin Webbed neck Limitation of joint mobility Bifid uvula Triangular face Abnormality of skin pigmentation Facial asymmetry Tapered finger Self-injurious behavior Kyphoscoliosis Ankle contracture Pulmonary artery stenosis Ophthalmoplegia Branchial cyst Sacral lipoma Spasticity Hypertonia Pes cavus Retinopathy Hyperlordosis Brachydactyly Thin vermilion border Unilateral cryptorchidism Decreased serum testosterone level Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus Sparse body hair Secondary amenorrhea Generalized joint laxity Male hypogonadism Absence of secondary sex characteristics Gynecomastia Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Increased female libido Hypogonadotrophic hypogonadism Primary amenorrhea Small for gestational age Hand clenching Hip dislocation Joint contracture of the hand Elbow flexion contracture Adducted thumb Metatarsus adductus Hip contracture Spinal canal stenosis Trismus Overlapping fingers Calcaneovalgus deformity Decreased testicular size Ulnar deviation of the wrist Absent distal interphalangeal creases Stiff shoulders Depressivity Delayed skeletal maturation Osteoporosis Osteopenia Anxiety Delayed puberty Wide intermamillary distance Ventriculomegaly Severe global developmental delay Abnormal myelination Abnormality of the pinna Bulbous nose Supernumerary nipple Prominent metopic ridge Low hanging columella Square face Generalized hypotonia Delayed speech and language development Edema Agenesis of corpus callosum Blepharophimosis Astigmatism Short philtrum Abnormality of the cerebral white matter Joint hypermobility Flat face Downturned corners of mouth Bilateral ptosis Language impairment Vertebral fusion Delayed ability to walk Muscle weakness Smooth philtrum Oral cleft Underdeveloped nasal alae Prominent nose Sloping forehead Finger clinodactyly Short chin Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Polyhydramnios Neurological speech impairment Oligohydramnios Dolichocephaly Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Myopia Atrial septal defect Prominent nasal bridge Camptodactyly of toe



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