Cryptorchidism, and Triangular face

Diseases related with Cryptorchidism and Triangular face

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Triangular face 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 BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

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

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Other less relevant matches:

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

High match MEIER-GORLIN SYNDROME 5; MGORS5


Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C


Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

High match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Triangular face

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

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

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Flexion contracture Delayed speech and language development Short stature Prominent forehead Hypertelorism Microcephaly Strabismus Feeding difficulties Seizures Talipes equinovarus Decreased body weight Long philtrum Deeply set eye Micrognathia Pointed chin Macrotia Frontal bossing Protruding ear Long face Macrocephaly

Rare Symptoms - Less than 30% cases


Bundle branch block Gastroesophageal reflux Cerebellar hypoplasia Camptodactyly Thin upper lip vermilion Neonatal hypotonia Neurological speech impairment Dysmetria Focal-onset seizure Ptosis Focal impaired awareness seizure Downslanted palpebral fissures Intellectual disability, mild Failure to thrive Cleft palate Narrow naris Right bundle branch block Scoliosis Wide nasal base Entropion Abnormal facial shape High palate Muscular hypotonia Disproportionate tall stature Atrial septal defect Hernia Kyphoscoliosis Broad nasal tip Convex nasal ridge Knee flexion contracture Cutis laxa Ventriculomegaly Epicanthus Pectus excavatum Pterygium Scrotal hypoplasia Clinodactyly Retrognathia Delayed skeletal maturation Prominent nose Blepharophimosis Pes planus Ataxia Wide nasal bridge Bulbous nose Nystagmus Hearing impairment Abnormality of the genitourinary system Poor head control Horizontal eyebrow Short chin Webbed neck Dandy-Walker malformation Deep philtrum Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Congenital hip dislocation Limitation of joint mobility Abnormality of skin pigmentation Bifid uvula Arthrogryposis multiplex congenita Clinodactyly of the 5th finger Pain insensitivity Hyperlordosis Retinopathy Camptodactyly of finger Finger syndactyly Oval face Inverted nipples Overfolded helix Delayed ability to walk Ophthalmoplegia Abnormality of the foot Facial asymmetry Myopathic facies Talipes Bilateral talipes equinovarus Single transverse palmar crease Overlapping toe Submucous cleft hard palate Decreased muscle mass Mask-like facies Sepsis Astigmatism Gliosis Sloping forehead Narrow palpebral fissure Synophrys Syndactyly Prominent nasal bridge Cavum septum pellucidum Downturned corners of mouth Pain Overfolding of the superior helices Dysarthria Dysphagia Anteverted nares Cerebellar atrophy Posteriorly rotated ears High forehead Polymicrogyria Hypertrophic cardiomyopathy Cutaneous finger syndactyly Ulnar deviation of the hand or of fingers of the hand Muscular hypotonia of the trunk Distal arthrogryposis Thoracolumbar scoliosis Stereotypy Down-sloping shoulders Apraxia Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Vesicoureteral reflux Cataract Decreased fetal movement Ventricular septal defect Hypoplasia of the corpus callosum Cardiomyopathy Delayed myelination Congestive heart failure Inguinal hernia Pneumonia Toe clinodactyly Short neck Gait ataxia Spasticity Cognitive impairment Tremor Intellectual disability, severe Dilatation Hyperactivity Cerebral cortical atrophy Autism Unilateral cryptorchidism Mandibular prognathia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Poor speech Abnormal cerebellum morphology Hypotelorism Penoscrotal hypospadias Melanocytic nevus Intention tremor Smooth philtrum Kyphosis Tall stature Cupped ear Depressed nasal bridge Narrow mouth Coarse facial features Carcinoma Joint hypermobility Relative macrocephaly Thin vermilion border Cafe-au-lait spot Hypospadias Patent ductus arteriosus Feeding difficulties in infancy Small hand Ambiguous genitalia Finger clinodactyly Cerebellar vermis hypoplasia Prominent supraorbital ridges Hypoplastic heart Laryngomalacia Birth length less than 3rd percentile Irregular femoral epiphysis Joint laxity Hip dysplasia Mitral valve prolapse Dental crowding Aortic regurgitation Bilateral cryptorchidism Hypoplasia of the capital femoral epiphysis Tricuspid regurgitation Reduced subcutaneous adipose tissue Broad columella Pneumothorax Hand clenching Hypoplasia of the musculature Biventricular hypertrophy Small earlobe Irregular epiphyses External genital hypoplasia Disorganization of the anterior cerebellar vermis Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Intrauterine growth retardation Patellar aplasia Microtia Thick vermilion border Hypoplasia of the maxilla Microdontia Elbow dislocation Slender long bone Prominent metopic ridge Mild global developmental delay Broad chin



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