3308
(4.0%)

Myopathy-growth delay-intellectual disability-hypospadias syndrome

Hypospadias

3308
(4.0%)

Nail-patella-like renal disease

Renal insufficiency

Autosomal recessive inheritance

A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.

3308
(4.0%)

Benign cephalic histiocytosis

Diabetes insipidus

3308
(4.0%)

Dysphagia lusoria

Stroke

3308
(4.0%)

Gynandroblastoma

Amenorrhea

3308
(4.0%)

Beta-thalassemia-X-linked thrombocytopenia syndrome

Splenomegaly

X-linked recessive inheritance

Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.

3308
(4.0%)

Hereditary motor and sensory neuropathy type 6

Visual impairment

A rare axonal hereditary motor and sensoy neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.

3308
(4.0%)

Dermatoleukodystrophy

Hyperkeratosis

Autosomal recessive inheritance

Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.

3308
(4.0%)

Cataract-nephropathy-encephalopathy syndrome

Renal tubular dysfunction

Autosomal recessive inheritance

Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.

3308
(4.0%)

Oroya fever

Splenomegaly

3308
(4.0%)

New-onset refractory status epilepticus

Psychosis

New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.

3308
(4.0%)

Squamous cell carcinoma of the hypopharynx

Anemia

3308
(4.0%)

Idiopathic ductopenia

Hypothyroidism

3308
(4.0%)

Renal caliceal diverticuli-deafness syndrome

Hydroureter

Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.

3308
(4.0%)

Pediatric arterial ischemic stroke

Ataxia

3308
(4.0%)

Solid pseudopapillary carcinoma of pancreas

Acute pancreatitis

Solid pseudopapillary carcinoma of the pancreas is a rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.

3308
(4.0%)

Indeterminate cell histiocytosis

Pneumonia

A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).

3308
(4.0%)

Malignant teratoma of ovary

Hemangioma

3308
(4.0%)

Dural sinus malformation

Tinnitus

3308
(4.0%)

Eastern equine encephalitis

Meningitis

An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.

3308
(4.0%)

Urachal sinus

Ovarian cyst

Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.

3308
(4.0%)

Childhood-onset benign chorea with striatal involvement

Dementia

3308
(4.0%)

Albinism-deafness syndrome

Sensorineural hearing impairment

X-linked inheritance X-linked recessive inheritance

A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.

3308
(4.0%)

Non-24-hour sleep-wake syndrome

Blindness

Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.

3308
(4.0%)

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

Microcornea

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.

3308
(4.0%)

Autosomal recessive spastic paraplegia type 24

Sensorineural hearing impairment

Autosomal recessive inheritance

A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.

3308
(4.0%)

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Azoospermia

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

3308
(4.0%)

Exstrophy-epispadias complex

Epispadias

Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.

3308
(4.0%)

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Dementia

Autosomal dominant inheritance Autosomal recessive inheritance

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

3308
(4.0%)

X-linked spinocerebellar ataxia type 4

Dementia

X-linked inheritance X-linked recessive inheritance

Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.

3308
(4.0%)

X-linked endothelial corneal dystrophy

Esotropia

X-linked recessive inheritance X-linked dominant inheritance

X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.

3308
(4.0%)

Congenital bilateral absence of vas deferens

Azoospermia

Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.

3308
(4.0%)

Pancreatic colipase deficiency

Cholelithiasis

3308
(4.0%)

Oculocutaneous albinism type 6

Photophobia

Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).

3308
(4.0%)

Elastoderma

Eczema

An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically ocurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.

3308
(4.0%)

Progressive bifocal chorioretinal atrophy

Visual impairment

Autosomal dominant inheritance

Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.

3308
(4.0%)

Linear atrophoderma of Moulin

Pruritus

Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.

3308
(4.0%)

Congenital smooth muscle hamartoma

Melanocytic nevus

Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.

3308
(4.0%)

Cytomegalic congenital adrenal hypoplasia

Hypospadias

Autosomal recessive inheritance X-linked recessive inheritance

3308
(4.0%)

Cataract-microcornea syndrome

Microcornea

Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.