Cryptorchidism, and Talipes equinovarus

Diseases related with Cryptorchidism and Talipes equinovarus

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


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High match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

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 TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME


Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.

TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME Is also known as absent tibia-polydactyly syndrome|tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Talipes equinovarus
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TIBIAL HEMIMELIA-POLYSYNDACTYLY-TRIPHALANGEAL THUMB SYNDROME

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High match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

High 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

High match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

High match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

High match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

High 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

High match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Talipes equinovarus

Symptoms // Phenotype % cases
Narrow mouth Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Talipes Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Short stature Depressed nasal ridge Growth delay Bilateral talipes equinovarus Abnormal facial shape Global developmental delay Oligohydramnios Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases


Micropenis Strabismus Downslanted palpebral fissures Ptosis Epicanthus Hearing impairment Bilateral renal hypoplasia Polydactyly Bilateral renal agenesis Agenesis of corpus callosum Cutaneous syndactyly Hypoplasia of the corpus callosum Seizures Intellectual disability Tracheoesophageal fistula Atrial septal defect Anal atresia Long philtrum Posteriorly rotated ears Camptodactyly Gastroesophageal reflux Flexion contracture Flat face Narrow chest Overgrowth Severe short stature Scrotal hypoplasia Low-set ears Bifid scrotum Micrognathia Delayed speech and language development Joint stiffness Short philtrum Scoliosis Underdeveloped nasal alae Craniosynostosis Renal dysplasia Falls Renal agenesis Overfolded helix Renal hypoplasia Primary amenorrhea Choanal atresia Proteinuria Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Anisospondyly Polycystic kidney dysplasia Neonatal short-limb short stature Unilateral renal agenesis Abnormality of the abdominal wall Generalized hirsutism Abnormality of the kidney Hirsutism Retrognathia Widow's peak Cerebellar hypoplasia Long fingers Prominent metopic ridge Short clavicles Broad neck Short columella Asplenia Velopharyngeal insufficiency Brachycephaly Median cleft palate Upper eyelid coloboma Hypertension Midface retrusion Wide anterior fontanel High palate Microtia Abnormality of cardiovascular system morphology Cupped ear Potter facies Non-midline cleft lip Dehydration Precocious puberty Optic nerve hypoplasia Cerebral palsy Exercise intolerance Hypocalcemia Heterotopia Growth hormone deficiency Short finger Abnormality of eye movement Severe global developmental delay Abnormality of the eye Hypoglycemia Hypothyroidism Autism Diabetes insipidus Absent septum pellucidum Cardiomyopathy Anterior pituitary hypoplasia Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Hemianopia Hypopituitarism Cavum septum pellucidum Colpocephaly Adrenocorticotropic hormone deficiency Panhypopituitarism Amniotic constriction ring Severe vision loss Obesity Fever Breech presentation Urethral obstruction Feeding difficulties Microcephaly Generalized hypotonia Fetal polyuria Bilateral renal dysplasia Sirenomelia Thoracic hypoplasia Anteverted nares Urogenital fistula Nonketotic hypoglycemia Abnormal sacrum morphology Abnormality of female internal genitalia Vaginal atresia Bicornuate uterus Intrauterine growth retardation Edema Visual impairment Bilateral ptosis Nystagmus Unilateral cryptorchidism Abnormal myelination Delayed ability to walk Vertebral fusion Language impairment Round face Abnormality of the pinna Downturned corners of mouth Joint hypermobility Abnormality of the cerebral white matter Broad forehead Blepharophimosis Wide mouth Calvarial skull defect Nasal speech Abnormality of pelvic girdle bone morphology Decreased hip abduction Knee flexion contracture Adducted thumb Rocker bottom foot Metatarsus adductus Hip contracture Spinal canal stenosis Distal arthrogryposis Trismus Overlapping fingers Hand clenching Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Elbow flexion contracture Absent distal interphalangeal creases Stiff shoulders Abnormal heart morphology Confusion Postaxial polydactyly Aganglionic megacolon Radioulnar synostosis Preaxial polydactyly Triphalangeal thumb Bilateral cryptorchidism Absent thumb Aplasia/Hypoplasia of the thumb Synostosis of carpal bones Congenital hip dislocation Joint contracture of the hand Depressed nasal tip Hypoplastic labia majora Abnormality of the skeletal system Dementia Cleft lip Toe syndactyly Cleft upper lip Bifid uvula Abnormality of the genital system Spina bifida occulta Pterygium Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Labial hypoplasia Single transverse palmar crease Ankyloblepharon Popliteal pterygium Hypoplasia of the vagina Abnormality of the scrotum Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Muscle weakness Hip dislocation Arthrogryposis multiplex congenita Abnormality of the foot Short tibia Patellar aplasia Short long bone Neurological speech impairment Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Failure to thrive Abnormality of the dentition Hernia Polyhydramnios Deeply set eye Feeding difficulties in infancy Camptodactyly of finger Ulnar deviation of finger Fetal pyelectasis Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Respiratory insufficiency Malar flattening Inguinal hernia Umbilical hernia Micromelia Blue sclerae Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Rectal fistula Unilateral renal hypoplasia Abnormality of fibula morphology Gynecomastia Short lower limbs Absent tibia Fibular bowing Aplasia/Hypoplasia of the tibia Limb duplication Depressed nasal bridge Ventricular septal defect Short nose Abnormality of metabolism/homeostasis Hypospadias Hydronephrosis Hypoplasia of penis Ambiguous genitalia Abnormality of the hair Bilateral lung agenesis Abnormality of the voice Hydroureter Decreased fertility Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Cystic renal dysplasia Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Atrophy of the spinal cord Anorectal anomaly Abnormality of the bladder Decreased circulating follicle stimulating hormone level



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