Cryptorchidism, and Bulbous nose

Diseases related with Cryptorchidism and Bulbous nose

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


Top matches:

High match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

High match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

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

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

High match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


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

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 INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Bulbous nose

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypertelorism Smooth philtrum Blepharophimosis Feeding difficulties Ptosis Thin vermilion border Myopia Downslanted palpebral fissures Atrial septal defect Camptodactyly Muscular hypotonia Failure to thrive Growth delay Strabismus Short stature Microcephaly Hernia Micrognathia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Hearing impairment Abnormality of the pinna Dysarthria Cavum septum pellucidum Wide nasal bridge Narrow mouth Carcinoma Disproportionate tall stature Triangular face Prominent nose Bifid uvula Absent speech Synophrys Ventricular septal defect Short palpebral fissure Wide intermamillary distance High myopia Hypoplasia of the corpus callosum Retrognathia Inguinal hernia Macrotia Prominent nasal bridge Slender finger Ventriculomegaly Talipes equinovarus Sloping forehead Cafe-au-lait spot Gait disturbance Protruding ear Specific learning disability Sparse eyebrow Pes planus Camptodactyly of finger Long eyelashes Low anterior hairline Long nose Prominent occiput Bilateral single transverse palmar creases Joint hyperflexibility Single umbilical artery Volvulus Submucous cleft hard palate Speech apraxia Diastema Unilateral cryptorchidism Cleft palate Cognitive impairment High palate Anteverted nares Atrioventricular canal defect Abnormality of the antihelix Thin upper lip vermilion Cerebellar hypoplasia Thyroid dysgenesis Aggressive behavior Thyroid agenesis Ectopic thyroid Wide mouth Coloboma Abnormal cardiac septum morphology Thick eyebrow Broad thumb Neoplasm of the tongue Downturned corners of mouth Thyroid hypoplasia Highly arched eyebrow Broad nasal tip Intestinal malrotation Abnormal nasolacrimal system morphology Myoclonus Pectus excavatum Dental crowding Hyperpigmentation of the skin Epileptic spasms Focal motor seizures Narrow palm Generalized myoclonic seizures Long hallux Small earlobe Hyperextensibility of the finger joints Webbed neck Slender build Long fingers Asymmetry of the ears Intellectual disability, profound Decreased muscle mass Thick lower lip vermilion Broad-based gait Nasal speech Tall stature Spontaneous abortion Narrow face Long palm Patent ductus arteriosus Brachycephaly Facial asymmetry Polyhydramnios Mandibular prognathia Kyphoscoliosis Difficulty walking Intellectual disability, moderate Pectus carinatum Short philtrum Hypothyroidism Abnormality of movement Clinodactyly of the 5th finger Arachnodactyly Unsteady gait High, narrow palate Recurrent fractures Posteriorly rotated ears Severe short stature Recurrent respiratory infections Postural instability Osteoporosis Micropenis Constipation Truncal obesity Small for gestational age Small hand Short foot Decreased testicular size Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Sparse body hair Deeply set eye Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Depressed nasal bridge Long philtrum Clinodactyly Coarse facial features Joint hypermobility Neonatal hypotonia Hypogonadism Scrotal hypoplasia Bilateral cleft lip and palate Epicanthus Midface retrusion Upslanted palpebral fissure Cleft lip Single transverse palmar crease Sparse eyelashes Ectropion Bilateral cleft lip High anterior hairline Delayed skeletal maturation Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Intrauterine growth retardation Intellectual disability, mild Obesity Decreased body weight Hypospadias Nystagmus Convex nasal ridge Cardiomyopathy Congestive heart failure Pneumonia Hypertrophic cardiomyopathy Polymicrogyria Sepsis Gliosis Focal-onset seizure Pointed chin Flexion contracture Narrow palpebral fissure Cutis laxa Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Entropion Wide nasal base Narrow naris Motor delay Cataract Dolichocephaly Hypopigmentation of the skin Astigmatism Supernumerary nipple Prominent metopic ridge Low hanging columella Square face Anemia Abnormality of the skeletal system Thrombocytopenia Abnormality of the kidney Pancytopenia Squamous cell carcinoma of the tongue Short thumb Bone marrow hypocellularity Horseshoe kidney Hypoplasia of the radius Squamous cell carcinoma Absent thumb Absent radius Vitiligo Pelvic kidney Abnormality of the cheek



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