Cryptorchidism, and Palmoplantar keratoderma

Diseases related with Cryptorchidism and Palmoplantar keratoderma

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

Top matches:

Medium match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis|rxli|xli|steroid sulfatase deficiency

Related symptoms:

  • Cryptorchidism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE X-LINKED ICHTHYOSIS

X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.Schnyder (1970) gave a useful classification of the inherited ichthyoses.Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.

ICHTHYOSIS, X-LINKED; XLI Is also known as ssdd|placental steroid sulfatase deficiency|sts deficiency|steroid sulfatase deficiency|steroid sulfatase deficiency disease

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ICHTHYOSIS, X-LINKED; XLI

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hyperkeratosis Common - Between 50% and 80% cases
Ichthyosis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dry skin Hypertelorism Downslanted palpebral fissures Scoliosis Hypohidrosis Hearing impairment Neoplasm Alopecia Ptosis Pectus excavatum Ventriculomegaly Melanocytic nevus Scaling skin Frontal bossing Absent eyebrow Strabismus Cleft palate Proptosis Abnormality of the nail Alopecia of scalp Abnormal eyelash morphology Opacification of the corneal stroma Hypotrichosis Hydrocephalus Feeding difficulties Macrotia Abnormality of the dentition Epidermal acanthosis Hyperhidrosis Delayed skeletal maturation Seizures Erythema Sparse hair Scarring Nail dystrophy Autism Corneal opacity Umbilical hernia

Rare Symptoms - Less than 30% cases

Underdeveloped supraorbital ridges Oxycephaly Hydronephrosis Abnormality of the kidney Polydactyly Failure to thrive Cerebral cortical atrophy Recurrent respiratory infections Inguinal hernia Bifid scrotum Thickened helices Hernia Skin tags Microphthalmia Muscular hypotonia Flexion contracture Hypoplasia of the zygomatic bone Nystagmus Kyphosis Growth delay Intellectual disability, severe Myopia Microcephaly Hydroureter Respiratory tract infection Abnormal cardiac septum morphology Relative macrocephaly Abnormality of the sternum Generalized hypotonia High palate Delayed speech and language development Short neck Gastroesophageal reflux Neurological speech impairment Nevus Pulmonic stenosis Webbed neck Coarctation of aorta Sparse eyebrow Curly hair Hyperkeratosis pilaris Attention deficit hyperactivity disorder Hypogonadism Hyperpigmentation of the skin Telecanthus Papule Absent eyelashes Astigmatism Postaxial polydactyly Abnormality of the ribs Hemivertebrae Unilateral renal agenesis Abnormality of vision Congenital ichthyosiform erythroderma Submucous cleft hard palate Follicular hyperkeratosis EEG abnormality Ataxia Micrognathia Cataract Motor delay Epicanthus Dysarthria Macrocephaly Coarse facial features Redundant skin Hemiparesis Aganglionic megacolon Carcinoma Abnormality of the eye Low-set, posteriorly rotated ears Sparse eyelashes Agenesis of corpus callosum Malar flattening Respiratory distress Anteverted nares Optic atrophy Depressed nasal bridge Carious teeth Photophobia Corneal erosion Corneal scarring Pain Sparse and thin eyebrow Recurrent corneal erosions Cerebellar hypoplasia Dystrophic fingernails Thickened skin Aplasia/Hypoplasia of the eyebrow Conjunctivitis Dolichocephaly Urticaria Narrow palate Blindness Nail dysplasia Progressive visual loss Keratitis Fine hair Choanal atresia Hypoplastic fingernail Neoplasm of the skin Visual loss Myocardial infarction Deep philtrum Cafe-au-lait spot Decreased body weight Obsessive-compulsive behavior Open mouth Brittle hair Inflammatory abnormality of the skin Low posterior hairline Hyperextensible skin Large for gestational age Open bite Cardiomegaly Narrow forehead Bilateral ptosis Malnutrition Abnormality of the cardiovascular system Lymphedema Cerebral visual impairment Pleural effusion Abnormality of the genitourinary system Ectropion Growth hormone deficiency Cubitus valgus Chronic otitis media Delayed gross motor development Optic nerve hypoplasia Heart murmur Palmoplantar hyperkeratosis Aspiration Sleep apnea Hemangioma Poor suck Failure to thrive in infancy Abnormal palate morphology Cutis laxa Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Arnold-Chiari malformation Pes cavus Clinodactyly of the 5th finger Feeding difficulties in infancy Hypertrophic cardiomyopathy Aggressive behavior Osteopenia Severe global developmental delay High forehead Polyhydramnios Prominent forehead Posteriorly rotated ears Constipation Abnormal heart morphology Arthritis Encephalopathy Depressivity Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Long philtrum Short nose Splenomegaly Behavioral abnormality Congestive heart failure Irritability Pectus carinatum Dental malocclusion Thick vermilion border Premature birth Intestinal malrotation Vesicoureteral reflux Full cheeks Abnormal bleeding Abdominal distention Neurofibromas Sleep disturbance High, narrow palate Hepatic steatosis Retinal dystrophy Leukemia Bruising susceptibility Bulbous nose Falls Joint hypermobility Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Genu valgum Hypermetropia Abnormality of the cerebral white matter Pruritus Neurodevelopmental delay Atopic dermatitis Infantile spasms Opacification of the corneal epithelium Testicular seminoma Abnormality of the stomach Abdominal wall defect Abnormality of the abdominal wall Acute leukemia Dysphasia Lissencephaly Renal insufficiency Mild short stature Abnormal facial shape Elevated circulating follicle stimulating hormone level Respiratory insufficiency External genital hypoplasia Bilateral cryptorchidism Anosmia Hypergonadotropic hypogonadism Sensorineural hearing impairment Abnormality of metabolism/homeostasis Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Muscle weakness Myopathy Cutaneous T-cell lymphoma Multiple joint contractures Gastrostomy tube feeding in infancy Minicore myopathy Pes valgus Generalized joint laxity Overweight Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Respiratory failure Congenital muscular dystrophy Congenital contracture Poor head control EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Delayed puberty Limb muscle weakness Muscular dystrophy Joint laxity Neonatal hypotonia Inappropriate crying Morphological abnormality of the gastrointestinal tract Long palpebral fissure Short attention span Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Slow-growing hair Abnormality of the ulna Premature skin wrinkling Enlarged kidney Arnold-Chiari type I malformation Vomiting Poor appetite Anal stenosis Generalized hyperpigmentation Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Abnormal mitral valve morphology Subvalvular aortic stenosis Puberty and gonadal disorders Abnormal tricuspid valve morphology Abnormal location of ears Abnormality of the hairline Visual impairment Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormality of the optic disc Abnormal aortic valve morphology Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Hypertonia Bridged sella turcica Edema Omphalocele Plagiocephaly Abnormality of dental enamel Recurrent bacterial infections Dystrophic toenail Multicystic kidney dysplasia Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Renal dysplasia Furrowed tongue Psoriasiform dermatitis Oligohydramnios Eczema Postaxial hand polydactyly Specific learning disability Ectodermal dysplasia Brain atrophy Pulmonary hypoplasia Oral leukoplakia Talipes Corneal neovascularization Abnormality of the hand Erythroderma Hip dislocation Parakeratosis Abnormality of the upper urinary tract Cheilitis Alopecia universalis Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Heat intolerance Squamous cell carcinoma Abnormal eyelid morphology Blepharitis Uveitis Keratoconjunctivitis sicca Macule Oligodactyly Ectrodactyly Atonic seizures Cellulitis Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Severe hearing impairment Intestinal obstruction Platyspondyly Abnormality of the tongue Abnormal nasolacrimal system morphology Choanal stenosis Prominent umbilicus Palmoplantar cutis laxa Craniofacial dysostosis Visceral angiomatosis Overgrowth Cloverleaf skull Redundant neck skin Aplasia/Hypoplasia of the earlobes Abnormality of the pancreas Breech presentation Small nail Palmoplantar cutis gyrata Abnormality of the skull Hearing abnormality Turricephaly Abnormality of the face Anteriorly placed anus Natal tooth Limited elbow extension Subcutaneous nodule Gingival overgrowth Reduced number of teeth Prominent scrotal raphe Preauricular skin furrow Camptodactyly of finger Moderate hearing impairment Squamous cell carcinoma of the skin Developmental regression Camptodactyly Keratoconjunctivitis Mental deterioration Recurrent bacterial skin infections Generalized hyperkeratosis Dementia Severe short stature Corneal ulceration Trichiasis Prominent nasal bridge Recurrent infections Dilatation Abnormality of corneal stroma Immunodeficiency Hypertension Hypoplasia of the corpus callosum Intrauterine growth retardation Midface retrusion Narrow mouth Craniosynostosis Subcortical cerebral atrophy Abnormality of temperature regulation Atrial septal defect Broad face Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Neoplasm of the endocrine system Parietal bossing Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Colitis Vertebral fusion Agenesis of permanent teeth Vertebral wedging Ovarian carcinoma Basal cell carcinoma Plantar pits Cardiomyopathy Delayed eruption of teeth Ventricular septal defect Dysphagia Hepatomegaly Low-set ears Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Acanthosis nigricans Ovarian fibroma Multiple impacted teeth Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Long fingers Milia Hyperconvex fingernails Spasticity Glaucoma Abdominal pain Brachycephaly Osteolysis Syndactyly Abnormality of the skeletal system Wide nasal bridge Brachydactyly Reduced tendon reflexes Congenital sensorineural hearing impairment Hypoplastic toenails Kyphoscoliosis Hemiplegia/hemiparesis Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Mandibular prognathia Retrognathia Disproportionate tall stature Skin ulcer Inflammation of the large intestine Nephritis Glomerulonephritis Spina bifida occulta Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Exotropia Cerebral calcification Proteinuria Hypotension Elbow flexion contracture Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Coloboma Facial palsy Cleft lip Knee flexion contracture Abnormal elasticity of skin


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