Cryptorchidism, and Alopecia

Diseases related with Cryptorchidism and Alopecia

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


Top matches:

Medium match ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).

Related symptoms:

  • Cryptorchidism
  • Hernia
  • Inguinal hernia
  • Alopecia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9

Medium match PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

Medium match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

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Other less relevant matches:

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Medium match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Medium match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Alopecia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
Encephalocele Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ichthyosis Microcephaly Hearing impairment Global developmental delay Fine hair Hypogonadism Intrauterine growth retardation Sparse and thin eyebrow Growth delay Hypertelorism Brachycephaly Nail dystrophy Upslanted palpebral fissure Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Hernia Coronal craniosynostosis Calvarial skull defect Bifid nose Oral leukoplakia Hyperkeratosis Scoliosis Osteoporosis Broad nasal tip Cerebellar hypoplasia Nail dysplasia Brachydactyly Wide nasal bridge Hyperhidrosis Severe short stature Growth hormone deficiency Sparse scalp hair Hypotrichosis Ataxia Aganglionic megacolon Cognitive impairment Underdeveloped nasal alae Abnormality of the dentition Hypohidrosis Broad columella Sparse eyelashes Nystagmus Low-set ears Frontal bossing Parietal foramina Telecanthus Agenesis of corpus callosum Microphthalmia Narrow forehead Umbilical hernia Pes planus Large fontanelles Joint laxity Joint hypermobility Bruising susceptibility Hirsutism Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Overgrowth Upper airway obstruction High myopia Coarse facial features Decreased body weight Depressed nasal ridge Bronchiectasis Gingival overgrowth Hypergonadotropic hypogonadism Cutis laxa Hyperextensible skin Short palpebral fissure Hypoplasia of the corpus callosum Cerebellar vermis hypoplasia Redundant skin Increased susceptibility to fractures Thick lower lip vermilion Dilatation Retrognathia Choroid plexus cyst Wide mouth Abnormal toenail morphology Alopecia totalis Aortic aneurysm Thick nasal alae Anterior pituitary hypoplasia Bifid nasal tip Meningocele Glaucoma Large sella turcica Median cleft palate Decreased lacrimation Dermoid cyst Patellar hypoplasia Median cleft lip Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Muscular hypotonia High palate Downslanted palpebral fissures Hypopituitarism Preaxial foot polydactyly Craniosynostosis Long philtrum Retrocerebellar cyst Visual impairment Premature ovarian insufficiency Hemiplegia/hemiparesis Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hypoplastic toenails Abnormal eyelash morphology Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Alopecia of scalp Corneal erosion Osteolysis Keratoconjunctivitis Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Squamous cell carcinoma of the skin Dystrophic toenail Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Hypoplastic fingernail Furrowed tongue Neoplasm of the skin Conjunctivitis High pitched voice Irregular dentition Pain Sensorineural hearing impairment Neoplasm Infra-orbital fold Upper eyelid edema Abnormal lip morphology Urethral stenosis Blindness Eclabion Generalized osteoporosis Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time Talipes equinovarus Visual loss Knee flexion contracture Carious teeth Elbow flexion contracture Skin ulcer Thickened skin Progressive visual loss Delayed eruption of teeth Palmoplantar keratoderma Severe global developmental delay Delayed skeletal maturation Scarring Erythema Arthritis Carcinoma Photophobia Pes cavus Ventriculomegaly Gastrointestinal hemorrhage Myopia Abnormality of the metacarpal bones Renal dysplasia Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Micrognathia Polyhydramnios Finger syndactyly Narrow chest Micromelia Omphalocele Hydrops fetalis Short ribs Absent radius Postaxial hand polydactyly Aplasia/Hypoplasia of the lungs Abnormality of the ulna Abnormality of tibia morphology Abnormality of femur morphology Aplasia/Hypoplasia of the abdominal wall musculature Coronal cleft vertebrae Abnormality of the humerus Fibular aplasia Abnormality of the radius Abnormal bone ossification Abnormally ossified vertebrae Aplasia/Hypoplasia of the fibula Severe short-limb dwarfism Hypoplastic iliac body Renal hypoplasia Decreased testicular size Poorly ossified vertebrae Wide nasal ridge Inguinal hernia Ectodermal dysplasia Abnormality of the genital system Fragile nails Concave nail Unilateral cryptorchidism Abnormal facial shape Broad thumb Narrow palate Sparse eyebrow Bilateral cryptorchidism Depressed nasal tip Diastema Aplasia cutis congenita of scalp Symmetrical, oval parietal bone defects Convex nasal ridge Agenesis of cerebellar vermis Vesicoureteral reflux Iris coloboma Protruding ear Intellectual disability, severe Hydrocephalus Cleft palate Broad philtrum Strabismus Conical tooth Scrotal hypoplasia Oligohydramnios Intellectual disability, moderate Intellectual disability, mild Anteverted nares Hypoplastic nasal septum Failure to thrive Ptosis Bone marrow hypocellularity Central heterochromia Anemia Delayed speech and language development Hypertension Thrombocytopenia Osteopenia Retinopathy Dry skin Abnormality of skin pigmentation Lymphoma Cerebral calcification Pancytopenia Abnormal lung morphology Hyperpigmentation of the skin Leukopenia Choroideremia Abnormal intestine morphology Portal hypertension Epiphora Pulmonary fibrosis Premature graying of hair Interstitial pulmonary abnormality Hodgkin lymphoma Aseptic necrosis Aplastic anemia Esophageal stricture Phimosis Reticulated skin pigmentation Pulmonary hemorrhage Seizures Long eyebrows Alopecia areata Muscle weakness Peripheral axonal neuropathy Peripheral neuropathy Cerebellar atrophy Obesity Rod-cone dystrophy Micropenis Gait ataxia Hypothyroidism Hypoglycemia Pallor Distal muscle weakness Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Retinal degeneration Titubation Horizontal nystagmus Recurrent hypoglycemia Progressive gait ataxia Retinal atrophy Chorioretinal atrophy Sensory axonal neuropathy Hypogonadotrophic hypogonadism Gynecomastia Distal amyotrophy Long eyelashes Clumsiness Hypoplasia of penis Pigmentary retinopathy Progressive cerebellar ataxia Thick eyebrow Abnormality of corneal stroma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Camptodactyly of finger, related diseases and genetic alterations Lymphoma and Proteinuria, related diseases and genetic alterations Flexion contracture and Lower limb muscle weakness, related diseases and genetic alterations Peripheral neuropathy and Brachydactyly, related diseases and genetic alterations Anemia and Confusion, related diseases and genetic alterations Short stature and Hypogonadism, related diseases and genetic alterations

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