Pain, and Hypospadias

Diseases related with Pain and Hypospadias

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

Top matches:

46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome

Related symptoms:

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about 46,XX SEX REVERSAL 2; SRXX2

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Other less relevant matches:

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Top 5 symptoms//phenotypes associated to Pain and Hypospadias

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Pain and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Intellectual disability Short nose Abnormal facial shape Hypertension Umbilical hernia Recurrent urinary tract infections Epicanthus Dental malocclusion Global developmental delay Micropenis Abnormality of the skeletal system Kyphoscoliosis Inguinal hernia Scoliosis Osteoporosis Skeletal dysplasia Full cheeks Micrognathia Otitis media Anteverted nares Narrow mouth Mandibular prognathia Generalized hypotonia Wormian bones Delayed cranial suture closure Short neck Delayed speech and language development Strabismus Conductive hearing impairment Seizures Hyperkeratosis Depressed nasal bridge Microcephaly Sensorineural hearing impairment Midface retrusion Flexion contracture Brachydactyly Failure to thrive Alopecia Feeding difficulties Cleft palate Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Dilatation Ileus Hernia Shawl scrotum Pectus excavatum Prematurely aged appearance Ptosis Anemia Arrhythmia Joint laxity Pulmonic stenosis Respiratory distress Abnormality of the face Congestive heart failure Drooling Overgrowth Hypothyroidism Vesicoureteral reflux Postnatal growth retardation Recurrent fractures Recurrent respiratory infections Spasticity Aspiration Constipation Short metatarsal Disproportionate short-limb short stature Short metacarpal Brachycephaly Severe short stature Talipes equinovarus Vomiting Absent frontal sinuses Osteolytic defects of the phalanges of the hand Vertebral compression fractures Radial bowing Premature loss of teeth Malar flattening Osteolysis Intestinal malrotation Gastroesophageal reflux Paralysis Telecanthus Recurrent infections Hydrocephalus Pneumonia High palate Abnormality of the genital system Delayed puberty Protruding ear Depressivity Kyphosis Abdominal pain Proptosis Neoplasm Posteriorly rotated ears Dislocated radial head Patent ductus arteriosus Sepsis Sparse hair Ventricular septal defect Increased body weight Sinusitis Hyperpigmentation of the skin Scarring Microtia Wide nasal bridge Hypotrichosis Hypoplasia of the maxilla Hypodontia Nail dystrophy Hypoplasia of penis Decreased serum testosterone level Thick vermilion border Irritability Bell-shaped thorax Loss of speech Infertility Flat face Short humerus Atonic seizures 11 pairs of ribs Everted lower lip vermilion Progressive spasticity Tapered finger Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Clubbing Oral-pharyngeal dysphagia Short femur Hypertonia Cerebral atrophy Multiple joint dislocation Abnormality of metabolism/homeostasis Clinodactyly Intellectual disability, severe Dysphagia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Laryngeal stenosis Fused cervical vertebrae Aplasia/Hypoplasia of the ulna Hydronephrosis Elbow dislocation Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Intellectual disability, moderate Otitis externa Hyperkinesis Sex reversal Polyhydramnios Scrotal hypoplasia Autism Weight loss Respiratory failure Polycystic ovaries Bifid scrotum Hypoplasia of the uterus Decreased fertility Gonadal dysgenesis Frontal bossing Azoospermia Gait disturbance Macrocephaly Hyperreflexia Abnormality of the uterus Elevated circulating follicle stimulating hormone level Neonatal epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Thyroid hypoplasia Macrotia Deeply set eye Renal agenesis Limb undergrowth Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Gynecomastia Rhizomelia Encephalocele Lumbar hyperlordosis Premature birth Anxiety Generalized myoclonic seizures Abdominal distention Inability to walk Nausea Talipes Poor speech Narrow chest Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Hyperlordosis Macroglossia Aganglionic megacolon Ambiguous genitalia Absent eyebrow Short clavicles Arthropathy Spinal rigidity Reduced subcutaneous adipose tissue Hypermelanotic macule High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Hyperglycemia Congenital muscular dystrophy Narrow nose Glomerulosclerosis Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Insulin resistance Dental crowding Large fontanelles Insulin-resistant diabetes mellitus Down-sloping shoulders Sparse scalp hair Limb-girdle muscle atrophy Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Bird-like facies Progeroid facial appearance Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Thin skin Hypertriglyceridemia Thick lower lip vermilion Facial hypotonia Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth U-Shaped upper lip vermilion Abnormal hemoglobin Perimembranous ventricular septal defect Hypochromic microcytic anemia Volvulus Chronic constipation Male pseudohermaphroditism Hypoganglionosis Protruding tongue Microcytic anemia Hydroureter Spastic diplegia Radial deviation of finger Tented upper lip vermilion Infantile muscular hypotonia Hemivertebrae Coxa valga Long hallux Hemoglobin H Omphalocele Epidermal acanthosis Proximal muscle weakness Nephrotic syndrome Abnormality of the cardiovascular system Convex nasal ridge Abnormality of the skin Round face Short distal phalanx of finger Abnormality of skin pigmentation Muscular dystrophy Joint stiffness Abnormality of the kidney Rigidity Bowel incontinence Retrognathia Diabetes mellitus Myopathy Edema Cataract Muscle weakness Abnormality of the clitoris Abnormality of the anus Bladder exstrophy Epispadias Abnormality of the ureter Hypoplastic vertebral bodies Spinal canal stenosis Constrictive median neuropathy Sparse eyelashes Recurrent otitis media Intellectual disability, mild Cardiomyopathy Respiratory insufficiency Choanal atresia Fatigue Hypohidrosis Hoarse voice Conjunctivitis Widely spaced teeth Split hand Atresia of the external auditory canal Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Abnormality of cardiovascular system morphology Abnormal heart morphology Bladder diverticulum Myocardial infarction Cubitus valgus Pterygium Mutism Spina bifida occulta Scapular winging Aortic valve stenosis Cafe-au-lait spot Mitral regurgitation Depressed nasal ridge Webbed neck Inflammatory abnormality of the skin Syncope Chest pain Triangular face Ectodermal dysplasia Pectus carinatum Microdontia Hypertrophic cardiomyopathy Neonatal hypotonia Small nail Fine hair Brittle hair Cor pulmonale Bilateral cryptorchidism Selective tooth agenesis Hip dislocation Blepharitis Absent eyelashes Arthralgia Chronic sinusitis Trismus Heat intolerance Pili torti Conical tooth Skin erosion Joint hyperflexibility Plantar hyperkeratosis Orthokeratosis Ankyloblepharon Hyperconvex nail Oval face Patchy alopecia Lacrimal duct atresia Bilateral choanal atresia 3-4 toe syndactyly Fibrous syngnathia Pustule Arachnodactyly Atelectasis Shock Premature skin wrinkling Pulmonary artery stenosis Erythroderma Hammertoe Progressive sensorineural hearing impairment 2-3 toe syndactyly Emphysema Epiphyseal dysplasia Aortic aneurysm Redundant skin Cutis laxa Hemolytic anemia Anhidrosis Anonychia Supernumerary nipple Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Oligohydramnios Agenesis of permanent teeth Sparse body hair Keratoconjunctivitis sicca Ectrodactyly Unilateral renal agenesis Bundle branch block Menstrual irregularities Elongated sella turcica Testicular dysgenesis Hypogonadism Ovotestis Obesity True hermaphroditism Abnormality of male internal genitalia Optic atrophy Abnormal scrotal rugation Cheyne-Stokes respiration Tall lumbar vertebral bodies Short palm Crowded carpal bones Serpentine fibula Bilateral vocal cord paralysis Foot acroosteolysis Basilar invagination Cervical instability Basilar impression Large sella turcica Short nail Platybasia Small for gestational age Small hand Generalized osteoporosis Mild short stature Elevated circulating parathyroid hormone level Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Epiphyseal stippling Vaginal dryness Broad palm Short finger Mixed hearing impairment Dextrocardia Cone-shaped epiphysis Delayed eruption of teeth Melanocytic nevus Perineal hypospadias Urogenital sinus anomaly Increased intracranial pressure Accelerated skeletal maturation Short phalanx of finger Open mouth Hypoplasia of the vagina Nevus Broad nasal tip Biconcave vertebral bodies Large earlobe Severe hearing impairment Delayed menarche Long philtrum Cleft upper lip Palmoplantar keratoderma Downslanted palpebral fissures Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Parietal bossing Oral cleft Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Abnormal mitral valve morphology Hyposmia Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Renal insufficiency Osteopenia Syndactyly Abnormal vertebral morphology Vocal cord paralysis Abnormality of the nervous system Cleft lip Proportionate short stature Camptodactyly Vertebral fusion Pathologic fracture Metatarsus adductus Narrow palpebral fissure Increased bone mineral density Long eyelashes Toe syndactyly Bowing of the long bones Renal cyst Wide nose Hirsutism Thick eyebrow Joint hypermobility Genu valgum Synophrys Abnormal cardiac septum morphology Coarse facial features Stiff elbow


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