Cryptorchidism, and Photophobia

Diseases related with Cryptorchidism and Photophobia

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


Top matches:

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

High 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

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Other less relevant matches:

High match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

High match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

High match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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

High match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

High match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Top 5 symptoms//phenotypes associated to Cryptorchidism and Photophobia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Keratitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hyperkeratosis Nystagmus Sensorineural hearing impairment Micropenis Microcephaly Alopecia Choanal atresia Carious teeth Global developmental delay Hypohidrosis Dry skin Conjunctivitis Blepharitis Scoliosis Failure to thrive Renal dysplasia Hypogonadotrophic hypogonadism Hydronephrosis Strabismus Syndactyly Intrauterine growth retardation Cataract Growth hormone deficiency Micrognathia Myopia Dilatation Recurrent respiratory infections Neoplasm Abnormality of the dentition Delayed skeletal maturation Immunodeficiency Malar flattening Erythema Nail dystrophy Fever Oligohydramnios Corneal erosion Nail dysplasia Generalized hypopigmentation Cleft lip Microtia Sparse and thin eyebrow Cleft upper lip Sparse eyelashes Recurrent corneal erosions Ectrodactyly Hydroureter Vesicoureteral reflux Ectodermal dysplasia Omphalocele Renal agenesis Hypoplasia of the maxilla Depressed nasal bridge Polydactyly Narrow mouth Hypertelorism Downslanted palpebral fissures Anal atresia Hypoplastic toenails Ventriculomegaly Muscular hypotonia Growth delay Generalized hypotonia Talipes equinovarus Intellectual disability, severe Microphthalmia Feeding difficulties Hypogonadism Scarring

Rare Symptoms - Less than 30% cases


Hypospadias Hemivertebrae Abnormality of the inner ear External genital hypoplasia Sparse scalp hair Plagiocephaly Split hand Thin skin Abnormality of the ribs Abnormality of the genital system Bifid scrotum Specific learning disability Abnormality of the urinary system Hand polydactyly Talipes Respiratory tract infection Absent septum pellucidum Microdontia Epicanthus Mixed hearing impairment Blepharophimosis Hyporeflexia Apnea Delayed puberty Autism Conductive hearing impairment Respiratory failure Prominent forehead Hypoplastic nipples Toe syndactyly Intellectual disability, mild Oral cleft Pulmonary hypoplasia Hypodontia Behavioral abnormality Vomiting Entropion Umbilical hernia Xerostomia Ureterocele Selective tooth agenesis Abnormal vertebral morphology Duplicated collecting system Abnormality of the nasopharynx Nail pits Abnormality of dental enamel Hypoplasia of dental enamel Cutaneous photosensitivity Opacification of the corneal stroma Dacryocystitis Urethral atresia Developmental regression Transverse vaginal septum Absence of Stensen duct Flexion contracture Mental deterioration Central diabetes insipidus Bladder diverticulum Cerebral cortical atrophy Attention deficit hyperactivity disorder Hernia Kyphosis Split foot Depressed nasal tip Blue irides Lacrimation abnormality Optic atrophy Anterior hypopituitarism Cutaneous syndactyly Sparse axillary hair Heat intolerance External ear malformation Dysuria Sparse pubic hair Hypoplasia of the thymus Reduced number of teeth Cognitive impairment Fair hair Inguinal hernia Ichthyosis Blindness Visual loss Cerebellar hypoplasia Hyperhidrosis Carcinoma Sparse hair Palmoplantar keratoderma Hypoplasia of the fovea Delayed eruption of teeth Fine hair Aganglionic megacolon Thickened skin Neoplasm of the skin Reduced tendon reflexes Pain Anophthalmia Scaling skin Severe global developmental delay Anemia Visual impairment Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Macrotia Low-set, posteriorly rotated ears Congenital cataract Astigmatism Webbed neck Respiratory insufficiency Respiratory distress Recurrent infections Posteriorly rotated ears Hypothyroidism Coloboma Urticaria Agenesis of corpus callosum Abnormality of the pinna Squamous cell carcinoma Abnormal eyelash morphology Alopecia of scalp Corneal scarring Macule Hypoplastic fingernail Absent eyebrow Glucose intolerance Migraine Pulmonary embolism Urinary incontinence Striae distensae Radial deviation of finger Impaired pain sensation Myeloid leukemia Emotional lability Narrow nasal bridge Polyphagia Albinism Large hands Bilateral sensorineural hearing impairment Absent radius Hypopigmentation of hair Inflammation of the large intestine Decreased muscle mass Adrenal insufficiency Aplasia/Hypoplasia of the cerebellum Skeletal muscle hypertrophy Tracheoesophageal fistula Truncal obesity Areflexia Polyneuropathy Muscle weakness Hypoplasia of the cochlea Bifid femur Abnormal soft palate morphology Parathyroid hypoplasia Hypoplasia of the semicircular canal Poor fine motor coordination Parachute mitral valve Posterior choanal atresia Abdominal obesity Cor pulmonale Hypothermia Hypoventilation Ocular albinism Headache Chromosome breakage Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Precocious puberty Iris hypopigmentation Hyperinsulinemia Infantile muscular hypotonia Failure to thrive in infancy Polymicrogyria Sleep disturbance Abnormality of immune system physiology Tapered finger Weak cry Broad palm Short foot Small hand Downturned corners of mouth Mask-like facies Short palm Arachnodactyly Progressive hearing impairment Infertility Progressive sensorineural hearing impairment Genu valgum Arnold-Chiari type I malformation Vestibular dysfunction Hypermetropia Pruritus Dolichocephaly Leukemia Hypoplasia of the ulna Hypopigmentation of the skin Sepsis Nasal speech Insulin resistance Poor suck Clitoral hypoplasia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Increased body weight Aortic valve stenosis Bradycardia Clumsiness Full cheeks Primary amenorrhea Psychosis Type II diabetes mellitus Decreased fetal movement Narrow forehead Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Febrile seizures Esotropia Gastrointestinal hemorrhage Anteverted ears Tics Frontal upsweep of hair Short thumb Hypocalcemia Abnormality of female internal genitalia Interrupted aortic arch Dimple chin Arrhinencephaly Narrow face Narrow naris Aspiration Lymphopenia Preauricular skin tag Abnormality of the cervical spine Abnormal aortic valve morphology Hypoplasia of the zygomatic bone Lop ear Small nail Renal hypoplasia Abnormality of the thymus Tetralogy of Fallot Dandy-Walker malformation Highly arched eyebrow Bilateral choanal atresia Iris coloboma Microphallus Horseshoe kidney Aortic arch aneurysm Chorioretinal coloboma Anosmia Laryngomalacia Facial paralysis Hyposmia Abnormality of tibia morphology Abnormality of the outer ear Labial hypoplasia Aqueductal stenosis Overfolded helix Cranial nerve paralysis Aplasia/Hypoplasia of the earlobes Abnormal cranial nerve morphology Retinal coloboma Torticollis Duodenal atresia Eyelid coloboma Gonadotropin deficiency Abnormally large globe Holoprosencephaly Peripheral pulmonary artery stenosis Choanal stenosis Short chin Down-sloping shoulders Abnormality of the adrenal glands Erysipelas Ptosis Long philtrum Atrial septal defect Anal stenosis Hydrocephalus Anteverted nares Ventricular septal defect Abnormality of the skeletal system Cupped ear Dysphagia Brachydactyly Acromicria Double outlet right ventricle Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Abnormality of vision Disseminated intravascular coagulation Esophageal atresia Midface retrusion Facial asymmetry Retrognathia Pulmonic stenosis Prominent nasal bridge Pectus carinatum Abnormal cardiac septum morphology Paralysis Postnatal growth retardation Feeding difficulties in infancy Abnormality of bone mineral density Abnormality of the eye Facial palsy Abnormal palmar dermatoglyphics Patent ductus arteriosus Gastroesophageal reflux Square face Polyhydramnios Aplasia/Hypoplasia of the thymus Pneumonia Broad neck Abnormal heart morphology Unilateral facial palsy Obsessive-compulsive behavior Hand monodactyly Triangular mouth Frontal bossing Stroke Short philtrum Anodontia Bilateral cleft lip Hypopituitarism Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Broad nasal tip Abnormality of the foot Small for gestational age Telecanthus Nasolacrimal duct obstruction Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Corneal neovascularization Rectovaginal fistula Semilobar holoprosencephaly Oral leukoplakia Taurodontia Periorbital hyperpigmentation Mesoaxial polydactyly Aplasia/Hypoplasia of the breasts Megacystis Abnormality of the middle ear Thin nail Urethral stenosis Inflammatory abnormality of the eye Aplasia/Hypoplasia of the nipples Slow-growing hair Aplasia/Hypoplasia of the thumb Abnormal salivary gland morphology Aplasia/Hypoplasia of the skin Proximal placement of thumb Coarse hair Renal hypoplasia/aplasia Recurrent urinary tract infections Lymphoma Nevus Thick eyebrow Finger syndactyly Slow-growing scalp hair Dystrophic fingernails Furrowed tongue Ataxia Iron deficiency anemia Pigmentary retinopathy Microcornea Retinal dystrophy Retinopathy Joint laxity Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Increased serum ferritin Microcytic anemia Arnold-Chiari malformation Non-midline cleft lip Polycystic ovaries Abnormality of the fingernails Bilateral single transverse palmar creases High myopia Hypoplasia of penis Convex nasal ridge Joint stiffness Short neck Wide nasal bridge Microretrognathia Optic nerve hypoplasia Dystrophic toenail Progressive visual loss Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Aplasia/Hypoplasia of the eyebrow Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Osteolysis Knee flexion contracture Elbow flexion contracture Skin ulcer Arthritis Short middle phalanx of finger Pes cavus Myopic astigmatism Aglossia Proboscis Macular scar Mandibular aplasia Ectopic posterior pituitary Central hypothyroidism Retinal dysplasia Microglossia Posterior embryotoxon Generalized microdontia Spasticity Abnormality of the nervous system Thin eyebrow Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Alopecia totalis Hypoplasia of the bladder Olivopontocerebellar atrophy Follicular hyperkeratosis Abnormal eyelid morphology Absent eyelashes Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Congenital ichthyosiform erythroderma Cerebral cortical hemiatrophy Scleritis Intestinal obstruction Obesity Neonatal hypotonia Hypoglycemia Thin upper lip vermilion Osteopenia Weight loss Hyperactivity Diabetes mellitus Upslanted palpebral fissure Osteoporosis Clinodactyly Short nose Thin fingernail Congestive heart failure Myopathy Edema Hypertension Motor delay Delayed speech and language development High palate Abnormal facial shape Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Abnormality of the vertebral column Unilateral renal agenesis Peripheral neuropathy Hypopigmented skin patches Conjunctival telangiectasia Craniofacial hyperostosis Poikiloderma Telangiectasia of the skin Freckling Hypermelanotic macule Melanocytic nevus Ectropion Pterygium Dermal atrophy Melanoma Ankyloblepharon Intellectual disability, progressive Aminoaciduria Bone marrow hypocellularity Telangiectasia Choreoathetosis Abnormality of extrapyramidal motor function Decreased testicular size EEG abnormality Arthralgia Fatigue Papilloma Defective DNA repair after ultraviolet radiation damage Erythroderma Postaxial polydactyly Psoriasiform dermatitis Abnormality of the hand Recurrent bacterial infections Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Epidermal acanthosis Eczema Postaxial hand polydactyly Brain atrophy Hypotrichosis Neoplasm of the eye Platyspondyly Papule Hip dislocation Corneal opacity Camptodactyly of finger Camptodactyly Abnormality of the kidney Dementia Severe short stature Hypoplasia of the corpus callosum Flat nasal alae Hydrocele testis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Sloping forehead, related diseases and genetic alterations Lymphoma and Syncope, related diseases and genetic alterations Epicanthus and Generalized muscle weakness, related diseases and genetic alterations Epicanthus and Short metacarpal, related diseases and genetic alterations

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