Cryptorchidism, and Blepharophimosis

Diseases related with Cryptorchidism and Blepharophimosis

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

Top matches:

High match TRISOMY XQ28

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

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

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Other less relevant matches:

High match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

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

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

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

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Top 5 symptoms//phenotypes associated to Cryptorchidism and Blepharophimosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Epicanthus Microcephaly Hearing impairment Downslanted palpebral fissures Delayed speech and language development Wide nasal bridge Pes planus Narrow mouth Low-set ears Abnormality of the pinna Strabismus Cafe-au-lait spot Growth delay Abnormal facial shape Thin vermilion border Generalized hypotonia Joint hypermobility Long philtrum

Rare Symptoms - Less than 30% cases

Motor delay Wide mouth Umbilical hernia Telecanthus Tapered finger Round face Hernia Upslanted palpebral fissure Hip dislocation Downturned corners of mouth Posteriorly rotated ears Deeply set eye Anteverted nares Pancytopenia Intrauterine growth retardation Short philtrum Short palpebral fissure Seizures Wide intermamillary distance Flat face Hypoplasia of the corpus callosum Hypospadias Delayed skeletal maturation Bulbous nose Pectus excavatum Everted lower lip vermilion Scrotal hypoplasia Intellectual disability, severe High palate Carcinoma Feeding difficulties Clinodactyly Renal hypoplasia Dental malocclusion Hypoplasia of penis Renal dysplasia Thick lower lip vermilion Intellectual disability, moderate Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Stage 5 chronic kidney disease Hypodontia Proteinuria Excessive wrinkled skin Large fontanelles Elbow flexion contracture Narrow palpebral fissure Cutis laxa Pyloric stenosis Athetosis Congenital glaucoma Narrow nasal ridge Hypothyroidism Dermal translucency Sensorineural hearing impairment Cataract Myopia Abnormality of the dentition Renal insufficiency Malar flattening Aplasia/Hypoplasia of the nipples Micropenis Behavioral abnormality Chordee Midface retrusion Impulsivity Cavum septum pellucidum Long toe Horizontal eyebrow Cleft palate Short neck Microphthalmia Osteopenia Easy fatigability Low-set, posteriorly rotated ears Microtia Carious teeth Short palm Microcornea Microdontia Overfolded helix Broad neck Polycystic ovaries Delayed gross motor development Nystagmus Anxiety Fine hair Short nose Syndactyly Obesity Hyperactivity High forehead Macrotia Aggressive behavior Insulin resistance Attention deficit hyperactivity disorder Hypermetropia Synophrys Thick eyebrow Thick vermilion border Gait disturbance Broad-based gait Stereotypy Thin skin Glaucoma Blue sclerae Caudal appendage Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Large fleshy ears Highly arched eyebrow Limited pronation/supination of forearm Prominent coccyx Prominent nose Triangular face Anemia Abnormality of the skeletal system Thrombocytopenia Spina bifida occulta Decreased body weight Hypopigmentation of the skin Large beaked nose Sloping forehead Oligodontia Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Selective tooth agenesis Scoliosis Oral cleft Prominent nasal bridge Retrognathia Severe short stature Clinodactyly of the 5th finger Hyperlordosis Postnatal growth retardation Craniosynostosis Abnormality of the kidney Smooth philtrum Underdeveloped nasal alae Unilateral cryptorchidism Abnormality of the cerebral white matter Severe global developmental delay Bilateral ptosis Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Flexion contracture Tented upper lip vermilion Neurological speech impairment Inguinal hernia Joint stiffness Prominent forehead Osteoporosis Convex nasal ridge Sparse hair Broad forehead Abnormality of chromosome segregation Short thumb Pelvic kidney Bone marrow hypocellularity Horseshoe kidney Hypoplasia of the radius Squamous cell carcinoma Absent thumb Absent radius Vitiligo Squamous cell carcinoma of the tongue Camptodactyly Coarse facial features Depressed nasal bridge Talipes equinovarus Hernia of the abdominal wall Edema Agenesis of corpus callosum Gastroesophageal reflux Ureterocele


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