Cryptorchidism, and Hypopigmentation of the skin

Diseases related with Cryptorchidism and Hypopigmentation of the skin

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

Top matches:

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

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

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Other less relevant matches:

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

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

Low 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

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

Low match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Failure to thrive Generalized hypotonia Global developmental delay Polydactyly Micropenis Ataxia Hypopigmented skin patches Syndactyly Micrognathia Malar flattening Hypertonia Hypogonadism Sparse scalp hair Renal dysplasia Neoplasm Prominent nasal bridge Choanal atresia Dry skin Keratitis Hypohidrosis Fatigue Scoliosis Photophobia Hyperkeratosis Cleft palate Coarse hair Blue irides Toe syndactyly Hypoplasia of the corpus callosum Intellectual disability, severe Depressed nasal bridge Sensorineural hearing impairment Blepharophimosis Hypertelorism Blepharitis Bladder diverticulum Cataract Squamous cell carcinoma Strabismus Abnormality of the skeletal system Muscular hypotonia Anemia Spasticity Motor delay Abnormal facial shape

Rare Symptoms - Less than 30% cases

Choreoathetosis Hand polydactyly Reduced number of teeth Sacral dimple Developmental regression Cerebral cortical atrophy Telangiectasia Abnormality of the face Posteriorly rotated ears Thickened skin Deeply set eye Aggressive behavior Telangiectasia of the skin Recurrent urinary tract infections Intellectual disability, progressive Selective tooth agenesis Anteverted nares Single transverse palmar crease Agenesis of corpus callosum Hyperactivity High palate Gait ataxia Severe global developmental delay Muscular hypotonia of the trunk Hypopituitarism Intellectual disability, moderate Smooth philtrum Dandy-Walker malformation Spotty hypopigmentation Full cheeks Abnormal palate morphology Hodgkin lymphoma Opacification of the corneal stroma Thick vermilion border Short philtrum Wide intermamillary distance Xerostomia Hypogonadotrophic hypogonadism Conjunctivitis Sparse eyelashes Absence of Stensen duct Transverse vaginal septum Urethral atresia Hydroureter Dacryocystitis Ectrodactyly Hypoplastic nipples Split foot Dilatation Depressed nasal tip Fair hair Ureterocele Generalized hypopigmentation Sparse axillary hair Nail pits Dysuria Abnormality of the nasopharynx Sparse pubic hair Hypoplasia of the thymus Duplicated collecting system Sparse and thin eyebrow Thin skin Narrow forehead Fine hair Entropion Self-injurious behavior Overlapping toe Fever Inguinal hernia Alopecia Hydronephrosis Cleft lip Microtia Specific learning disability Carious teeth Split hand Thick eyebrow Cleft upper lip Oral cleft Hypoplasia of the maxilla Hypodontia Vesicoureteral reflux Ectodermal dysplasia Growth hormone deficiency Sparse hair Renal agenesis Microdontia Cutaneous photosensitivity Central diabetes insipidus Abnormality of the dentition Recurrent respiratory infections Wide nasal bridge Myopia Hyporeflexia Constipation Protruding ear Postnatal growth retardation Diabetes mellitus Pes cavus Pneumonia Nystagmus Delayed skeletal maturation Hypopigmentation of hair Recurrent infections Immunodeficiency Telecanthus Diarrhea Intrauterine growth retardation Aganglionic megacolon Anosmia Peripheral neuropathy Erythema Finger syndactyly Bone marrow hypocellularity Carcinoma Prominent nose Bulbous nose Spotty hyperpigmentation Cafe-au-lait spot Ichthyosis Lymphoma Abnormal autonomic nervous system physiology Cutaneous syndactyly Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the skin Hypoplastic toenails Proximal placement of thumb Abdominal distention Renal hypoplasia/aplasia Aplasia/Hypoplasia of the breasts Abnormality of dental enamel Abnormality of the pinna Convex nasal ridge Cyanosis Autistic behavior Thick lower lip vermilion Open mouth Inflammatory abnormality of the eye Abnormality of the inner ear External ear malformation Astigmatism Small hand Neurological speech impairment Thin nail Apnea Hypoplasia of dental enamel Anxiety Abnormality of the middle ear Megacystis Lacrimation abnormality Anterior hypopituitarism Wide mouth Pes planus Slow-growing hair Corneal erosion Tapered finger Aplasia/Hypoplasia of the nipples Urethral stenosis Sleep disturbance Taurodontia Coarse facial features Atypical scarring of skin Postnatal microcephaly Happy demeanor Slow-growing scalp hair Clubbing of fingers Abnormal salivary gland morphology Abnormality of the helix Breathing dysregulation Thickened helices Abnormal pattern of respiration Pes valgus Semilobar holoprosencephaly Misalignment of teeth Large beaked nose Square face Small cerebral cortex Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Broad fingertip Triangular nasal tip Echolalia Flexion contracture Truncal ataxia Clubbing Finger clinodactyly Widely spaced teeth Nevus Aplasia/Hypoplasia of the corpus callosum Sleep apnea Mutism Incoordination Short metatarsal Periorbital hyperpigmentation Esophagitis Nail dystrophy Cupped ear Supernumerary nipple Aphasia Dysphasia Hyperventilation Hypospadias Hiatus hernia Acrocyanosis Mesoaxial polydactyly Mental deterioration Generalized microdontia Sepsis Progressive neurologic deterioration Trichorrhexis nodosa Tetraparesis Intellectual disability, profound Generalized-onset seizure Chorea Venous insufficiency Arterial stenosis Spontaneous hematomas Recurrent fractures Bowing of the long bones Neurodegeneration Joint hyperflexibility Narrow chest Multiple joint dislocation Hypocupremia Nausea and vomiting Malabsorption Feeding difficulties in infancy Joint laxity Abnormal carotid artery morphology Abnormality of the metaphysis Chronic diarrhea Jaundice Myopathic facies Hypothermia Abnormality of lipid metabolism Prolonged neonatal jaundice Woolly hair Tarsal synostosis Prominent occiput Opisthotonus Pili torti Osteomyelitis Chondrocalcinosis Wormian bones Cerebral hemorrhage Mask-like facies Metaphyseal widening Aplasia/Hypoplasia of the abdominal wall musculature Intracranial hemorrhage Hyperextensible skin Shock Cutis laxa Spastic tetraparesis Joint dislocation Hypoglycemia Umbilical hernia Cognitive impairment Abnormal vertebral morphology Melanocytic nevus Ectropion Pterygium Dermal atrophy Melanoma Reduced tendon reflexes Neoplasm of the skin Encephalopathy Aminoaciduria Clinodactyly Macule Upslanted palpebral fissure Abnormality of extrapyramidal motor function Decreased testicular size Autism Exostoses EEG abnormality Arthralgia Mandibular prognathia Gastroesophageal reflux Optic atrophy Hypermelanotic macule Freckling Brachycephaly Cerebellar atrophy Osteoporosis Dementia Pectus excavatum Hernia Metaphyseal spurs Therapeutic abortion Feeding difficulties Talipes equinovarus Cerebral atrophy Behavioral abnormality Dysarthria Poikiloderma Muscle weakness Short neck Flat nasal alae Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Craniofacial hyperostosis Absent speech Gastrointestinal hemorrhage 2-3 toe syndactyly Nasolacrimal duct obstruction Cardiomyopathy Decreased antibody level in blood Infertility Dolichocephaly Leukemia Skin rash Hyperhidrosis Severe short stature Clinodactyly of the 5th finger Short nose Intellectual disability, mild Spasmus nutans Otitis media Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Decreased lacrimation Abnormality of the skin Type II diabetes mellitus Microcolon Hypoplasia of the zygomatic bone Neoplasm of the gastrointestinal tract Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Acute leukemia Hypertrichosis IgG deficiency IgA deficiency Acute myeloid leukemia Myeloid leukemia Pulmonary fibrosis High pitched voice Azoospermia Narrow face Sinusitis Bronchiectasis Cerebral dysmyelination White eyebrow Facial telangiectasia in butterfly midface distribution Squamous cell carcinoma of the tongue Abnormality of the nervous system Neonatal hypotonia Hepatosplenomegaly Abdominal pain Myoclonus Areflexia Arrhythmia Splenomegaly Hepatomegaly Hypertension Pelvic kidney Abnormal pyramidal sign Vitiligo Absent radius Absent thumb Hypoplasia of the radius Horseshoe kidney Short thumb Short palpebral fissure Pancytopenia Abnormality of the kidney Thrombocytopenia Distal muscle weakness Arthrogryposis multiplex congenita White eyelashes Intestinal obstruction Alacrima Intestinal pseudo-obstruction Ileus White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Abnormal eyebrow morphology Congenital nystagmus Premature graying of hair Portal hypertension Distal amyotrophy Decreased nerve conduction velocity CNS hypomyelination Torticollis Spastic paraparesis Leukodystrophy Spastic tetraplegia Peripheral demyelination Underdeveloped nasal alae Tetraplegia Coma Distal sensory impairment Agenesis of maxillary lateral incisor Pain Recurrent corneal erosions Abnormal cardiac septum morphology Long fingers Broad hallux Ectopic kidney Overfolded helix Microretrognathia Narrow palpebral fissure Aortic valve stenosis Esotropia Wide nose Long face Low-set, posteriorly rotated ears Narrow nose Skeletal dysplasia Polyhydramnios Midface retrusion Congestive heart failure Hydrocephalus Ventriculomegaly Ventricular septal defect Brachydactyly Low-set ears Increased proinsulin:insulin ratio Epiphyseal stippling Overlapping fingers Aplasia/Hypoplasia of the macula Abnormality of the genital system Rectovaginal fistula Heat intolerance Anodontia Bilateral cleft lip Absent septum pellucidum Epiphora Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Oligodontia Omphalocele Otosclerosis Oligohydramnios Nail dysplasia Broad nasal tip Pulmonary hypoplasia Anal atresia Abnormality of the foot Small for gestational age Conductive hearing impairment Olivopontocerebellar hypoplasia Hypoplastic aortic arch Long neck Hypoplasia of the antihelix Lumbar kyphosis Ptosis Coloboma Exotropia Amblyopia Dental crowding Microcornea Retinal detachment Polymicrogyria Falls Arachnodactyly Congenital cataract Attention deficit hyperactivity disorder Rigidity Narrow palate Macrotia High forehead Hypothyroidism Reduced visual acuity Glaucoma Visual loss Microphthalmia Kyphosis Blindness Tremor Type I diabetes mellitus Optic nerve hypoplasia Aphakia Hyposmia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Ectopia pupillae Bilateral ptosis Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Ectopia lentis Overhanging nasal tip


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