Cryptorchidism, and Prominent forehead

Diseases related with Cryptorchidism and Prominent forehead

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

High match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

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Other less relevant matches:

High match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

High match WEBB-DATTANI SYNDROME; WEDAS


Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEBB-DATTANI SYNDROME; WEDAS

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match PYCR1-RELATED DE BARSY SYNDROME


De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

High match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Prominent forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Deeply set eye Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Delayed speech and language development Growth delay Frontal bossing Seizures Abnormal facial shape Spasticity Motor delay Flexion contracture Prominent nose Strabismus Hypospadias Low-set ears Ventriculomegaly Intellectual disability, severe Hypertelorism Thin vermilion border Triangular face Long face Protruding ear Pes planus

Rare Symptoms - Less than 30% cases


Long nose Intellectual disability, moderate Short philtrum Neurological speech impairment Thin upper lip vermilion Mandibular prognathia Hydrocephalus Growth hormone deficiency Epicanthus Syndactyly Microcephaly Hypoplasia of the corpus callosum Hydronephrosis Hip dislocation Underdeveloped nasal alae Scoliosis Sensorineural hearing impairment Micropenis Depressed nasal bridge Intrauterine growth retardation Short nose Downturned corners of mouth Inguinal hernia Gait ataxia Cleft palate Cerebral cortical atrophy Nystagmus Feeding difficulties Delayed skeletal maturation Retrognathia Macrotia Short stature Pointed chin Cerebellar hypoplasia Dilatation Large fontanelles Intellectual disability, mild Blepharophimosis Kyphosis Blue sclerae Fine hair Thin skin Elbow flexion contracture Narrow nasal ridge Narrow palpebral fissure Cutis laxa Sparse hair Athetosis Congenital glaucoma Hyperreflexia Excessive wrinkled skin Dermal translucency Pyloric stenosis Pectus excavatum Glaucoma Short palpebral fissure Abnormality of the pinna Small for gestational age Smooth philtrum Tall stature Wide nose Highly arched eyebrow Bifid uvula Round face Wide intermamillary distance Absence seizures Osteoporosis Microretrognathia Widely spaced teeth Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Hernia High forehead Posteriorly rotated ears Dementia Difficulty walking Coarse facial features Absent radius Abnormality of the metacarpal bones Preaxial polydactyly Hand polydactyly Triphalangeal thumb Preaxial hand polydactyly Short middle phalanx of finger Hallux valgus Tarsal synostosis Aplasia/Hypoplasia of the thumb Broad foot Abnormality of the face Short columella Abnormality of the wrist Preaxial foot polydactyly Abnormality of the nose Patellar aplasia Absent tibia Premature atrial contractions Rudimentary to absent tibiae Limb duplication Fibular duplication Aplasia/Hypoplasia of the corpus callosum Heterotopia Telecanthus Basal ganglia calcification Aggressive behavior Wide mouth Thick vermilion border Neurodegeneration Dandy-Walker malformation Cerebral calcification Choreoathetosis Narrow face Self-injurious behavior Aplasia/Hypoplasia of the cerebellum High-frequency hearing impairment Depressed nasal ridge Abnormality of the basal ganglia Talipes equinovarus Polydactyly Finger syndactyly Toe syndactyly Talipes Postaxial polydactyly Short foot Gliosis Limitation of joint mobility Muscular hypotonia of the trunk Micrognathia Agenesis of corpus callosum Microcornea Disorganization of the anterior cerebellar vermis Cataract Melanocytic nevus Pterygium Microphthalmia Pes cavus Skeletal dysplasia Coloboma Retinal detachment Long eyelashes Retrocerebellar cyst Rhizomelia Knee flexion contracture Deep philtrum Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Periorbital fullness Infra-orbital crease Abnormality of the philtrum Relative macrocephaly Penoscrotal hypospadias Autism Tremor Neonatal hypotonia Cognitive impairment Attention deficit hyperactivity disorder Ataxia Poor speech Dysmetria Abnormal cerebellum morphology Focal-onset seizure Microphallus Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Unilateral cryptorchidism Poor eye contact Enlarged cisterna magna Monocular strabismus Finger clinodactyly Absent speech Bilateral cryptorchidism Micromelia Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Adrenal insufficiency Craniosynostosis Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Failure to thrive Hyperactivity Dystonia Long philtrum Muscular dystrophy Respiratory tract infection Decreased body weight Feeding difficulties in infancy Blindness Hypothyroidism Gastroesophageal reflux Hypoglycemia Ambiguous genitalia Small hand Severe global developmental delay Vesicoureteral reflux Delayed myelination Postnatal microcephaly Postnatal growth retardation Cerebral palsy Diabetes insipidus Pituitary hypothyroidism Neurogenic bladder Central hypothyroidism Hypernatremia Hearing impairment Patent ductus arteriosus Cupped ear Hypogonadism Mirror image polydactyly



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