Cryptorchidism, and Bronchiectasis

Diseases related with Cryptorchidism and Bronchiectasis

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

Top matches:

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

High 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

High match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 3; MGORS3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Bronchiectasis

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Bronchomalacia Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Micrognathia Failure to thrive Hernia Short stature Hypospadias Downslanted palpebral fissures Tracheomalacia Growth delay Intrauterine growth retardation Delayed speech and language development Midface retrusion Hearing impairment Single transverse palmar crease Depressed nasal bridge Anteverted nares Malar flattening Hypertelorism Pneumonia Pulmonic stenosis Anemia Laryngomalacia Recurrent infections High palate Brachydactyly Low-set ears Delayed skeletal maturation Microretrognathia Muscular hypotonia Gastroesophageal reflux Micropenis Cleft palate Abnormality of the pinna Umbilical hernia Scoliosis

Rare Symptoms - Less than 30% cases

Frontal bossing High pitched voice Abnormal heart morphology Cutis laxa Brachycephaly Conductive hearing impairment Sparse scalp hair Narrow chest Patellar aplasia Ventricular septal defect Generalized hypotonia Tracheobronchomalacia Downturned corners of mouth Abnormal cardiac septum morphology Entropion Respiratory distress Atrial septal defect Clinodactyly Agenesis of corpus callosum Everted lower lip vermilion Hydronephrosis Postnatal growth retardation Severe short stature Tented upper lip vermilion Syndactyly Cardiomyopathy Patent ductus arteriosus Thick lower lip vermilion Thick vermilion border Sepsis Flat face Macroglossia Scrotal hypoplasia Talipes equinovarus Abnormality of chromosome stability Motor delay Clitoral hypertrophy Decreased antibody level in blood High forehead Feeding difficulties Protruding tongue Hirsutism Otitis media Sinusitis Lymphopenia Recurrent pneumonia Respiratory tract infection Posteriorly rotated ears Immunodeficiency Retrognathia Small for gestational age Abnormal facial shape Ichthyosis Macrocephaly Oligohydramnios Joint laxity Dilatation Coarse facial features Microtia Abnormality of the genital system Diarrhea Dyspnea Humeroradial synostosis Lumbar hyperlordosis Ulnar bowing Depressed nasal ridge Subglottic stenosis Sandal gap Short middle phalanx of finger Hip dysplasia Ptosis Nasogastric tube feeding Emphysema Hypoplastic labia majora Dysphagia Stenosis of the external auditory canal Cortical gyral simplification Abnormalities of placenta or umbilical cord Hypoplastic labia minora Growth hormone deficiency Severe postnatal growth retardation Prominent nasal bridge Hypoplasia of the maxilla Hypoplasia of the corpus callosum Triangular face Short ribs Coxa valga Coxa vara Genu varum Growth abnormality Short thorax Thoracic hypoplasia Narrow mouth Slender long bone Calvarial skull defect Underdeveloped nasal alae Sparse axillary hair Sparse pubic hair Breast hypoplasia Aplasia/Hypoplasia of the patella Maternal virilization in pregnancy Low maternal serum estriol Birth length less than 3rd percentile Absent sternal ossification Vesicovaginal fistula Strabismus Hyperlordosis Delayed puberty Delayed myelination Short neck Double outlet right ventricle Hydrocephalus Facial asymmetry Tetralogy of Fallot Limitation of joint mobility Vesicoureteral reflux Renal cyst Delayed eruption of teeth Sleep disturbance Highly arched eyebrow Poor speech Synophrys Coarctation of aorta Abnormality of the cerebral white matter Broad forehead Autistic behavior Developmental regression Aggressive behavior Mandibular prognathia Autism Cerebral cortical atrophy Hypoplasia of penis Psychosis Constipation Pulmonary artery stenosis Conotruncal defect U-Shaped upper lip vermilion Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Natal tooth Stereotypy Bowel incontinence Supernumerary nipple Impulsivity Obsessive-compulsive behavior Apathy Self-injurious behavior Chronic otitis media Pyloric stenosis Bicuspid aortic valve Upslanted palpebral fissure Arrhythmia Vomiting Abdominal distention Wide anterior fontanel Large fontanelles Pachygyria Short palpebral fissure Cerebellar vermis hypoplasia Small nail Intestinal malrotation Full cheeks Postural instability Sparse eyelashes Short palm Thin vermilion border Blepharophimosis Telecanthus Polyhydramnios Respiratory failure Cerebellar hypoplasia Abnormality of cardiovascular system morphology Narrow palpebral fissure Abnormality of the genitourinary system Obesity Endocardial fibroelastosis Renal insufficiency Behavioral abnormality Intellectual disability, severe Ventriculomegaly Seizures Laryngeal hypoplasia Anotia Extramedullary hematopoiesis Redundant neck skin Proximal placement of thumb Abnormality of the larynx Cleft soft palate Tracheal stenosis Pierre-Robin sequence Cloverleaf skull Anteriorly placed anus Hypoplastic left heart Bilateral cryptorchidism Neonatal respiratory distress Chordee Giant platelets Labial hypoplasia Intellectual disability, mild Skin rash Erythema Protruding ear Polydactyly Diabetes mellitus Hyperhidrosis Clinodactyly of the 5th finger Abnormality of the dentition Leukemia Neoplasm Infra-orbital fold Upper eyelid edema Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Finger syndactyly Dolichocephaly Abnormality of the vasculature Telangiectasia Hand polydactyly Reduced number of teeth Hypopigmented skin patches Sacral dimple Azoospermia Narrow face Cafe-au-lait spot Abnormality of the face Infertility Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Abnormality of the skin Prominent nose Lymphoma Generalized osteoporosis Palpebral edema Pulmonary fibrosis Communicating hydrocephalus Long philtrum Cognitive impairment Impaired T cell function Abnormality of neutrophils Decrease in T cell count Cellular immunodeficiency Chronic bronchitis Agammaglobulinemia Osteoporosis Shawl scrotum Bronchitis Combined immunodeficiency Malnutrition Neurodegeneration Malabsorption Epicanthus Alopecia Hypogonadism Abnormality of the sternum Sparse and thin eyebrow Prolonged bleeding time Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Redundant skin Hyperextensible skin Hypergonadotropic hypogonadism Gingival overgrowth Pes planus Decreased body weight High myopia Narrow forehead Overgrowth Bruising susceptibility Joint hypermobility Sparse hair Squamous cell carcinoma Telangiectasia of the skin Abnormality of the endocrine system Congenital neutropenia Abnormality of metabolism/homeostasis Flexion contracture Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Hypoplasia of the thymus Camptodactyly Prominent superficial veins Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Long fingers Unilateral renal agenesis Proptosis Craniosynostosis Leukopenia Bifid scrotum Choanal stenosis Abnormality of abdomen morphology Carpal synostosis Tarsal synostosis Femoral bowing Multiple joint contractures Rocker bottom foot Radioulnar synostosis Arachnodactyly Polycystic ovaries Arnold-Chiari malformation Hemivertebrae Horseshoe kidney Joint contracture of the hand Choanal atresia Ambiguous genitalia Failure to thrive in infancy Plagiocephaly Myeloid leukemia Chronic lung disease Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Hypoplastic pelvis Agenesis of maxillary lateral incisor Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Neoplasm of the gastrointestinal tract Facial telangiectasia in butterfly midface distribution Recurrent bacterial infections Pectus carinatum Broad thumb Mitral regurgitation Pulmonary arterial hypertension Renal agenesis Asthma Tapered finger Neutropenia Hepatosplenomegaly Sensorineural hearing impairment Thrombocytopenia Kyphosis Splenomegaly Respiratory insufficiency Wide nasal bridge Hepatomegaly Hypertension Muscle weakness Exaggerated cupid's bow


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