3308
(4.0%)

Retinal degeneration-nanophthalmos-glaucoma syndrome

Visual impairment

Autosomal recessive inheritance

Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.

3308
(4.0%)

Isolated aniridia

Glaucoma

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

3308
(4.0%)

Rosette-forming glioneuronal tumor

Hydrocephalus

Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.

3308
(4.0%)

Acute pandysautonomia

Sensory neuropathy

A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.

3308
(4.0%)

Fuchs heterochromic iridocyclitis

Cataract

Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.

3308
(4.0%)

Hereditary renal hypouricemia

Nephrolithiasis

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).

3308
(4.0%)

Spinal muscular atrophy with respiratory distress type 1

Sensory neuropathy

Autosomal recessive inheritance

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

3308
(4.0%)

Hepatoerythropoietic porphyria

Thin skin

Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.

3308
(4.0%)

Fetal iodine syndrome

Sensorineural hearing impairment

Autosomal recessive inheritance

Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).

3308
(4.0%)

Autosomal dominant striatal neurodegeneration

Dysarthria

Autosomal dominant inheritance

An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

3308
(4.0%)

Isolated tracheoesophageal fistula

Abnormality of the bladder

3308
(4.0%)

Porokeratosis plantaris palmaris et disseminata

Palmoplantar keratoderma

Autosomal dominant inheritance X-linked dominant inheritance

Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.

3308
(4.0%)

X-linked spasticity-intellectual disability-epilepsy syndrome

Intellectual disability

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

3308
(4.0%)

Congenital laryngeal cyst

Laryngomalacia

Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.

3308
(4.0%)

Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Eosinophilia

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

3308
(4.0%)

Biotin-thiamine-responsive basal ganglia disease

Dysarthria

Autosomal recessive inheritance

3308
(4.0%)

Isolated cytochrome C oxidase deficiency

Renal tubular dysfunction

Autosomal recessive inheritance Heterogeneous Mitochondrial inheritance

3308
(4.0%)

Secondary pulmonary alveolar proteinosis

Neutropenia

A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.

3308
(4.0%)

Disseminated peritoneal leiomyomatosis

Uterine leiomyoma

Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.

3308
(4.0%)

Properdin deficiency

Recurrent otitis media

X-linked recessive inheritance

Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.

3308
(4.0%)

Oligoastrocytoma

Polyuria

Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.

3308
(4.0%)

Rotor syndrome

Jaundice

Autosomal recessive inheritance

A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.

3308
(4.0%)

Foveal hypoplasia-presenile cataract syndrome

Abnormality of the eye

Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.

3308
(4.0%)

Atrophoderma vermiculata

Cataract

Autosomal dominant inheritance Autosomal recessive inheritance

3308
(4.0%)

Wound myiasis

Seborrheic dermatitis

3308
(4.0%)

Extragonadal teratoma

Neoplasm

Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.

3308
(4.0%)

Diffuse astrocytoma

Edema

3308
(4.0%)

Fetal cytomegalovirus syndrome

Sensorineural hearing impairment

A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.

3308
(4.0%)

Isolated optic neuritis

Visual loss

3308
(4.0%)

Squamous cell carcinoma of the oral cavity

Basal cell carcinoma

3308
(4.0%)

Erythrokeratoderma ''en cocardes''

Keratitis

Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis (see this term). Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.

3308
(4.0%)

Urachal diverticulum

Neurogenic bladder

Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.

3308
(4.0%)

Primary pulmonary lymphoma

Neoplasm

Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).

3308
(4.0%)

Tropical pancreatitis

Pancreatitis

Autosomal dominant inheritance Autosomal recessive inheritance

Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.

3308
(4.0%)

Multiloculated renal cyst

Renal cyst

3308
(4.0%)

Familial atypical multiple mole melanoma syndrome

Neurofibromas

Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.

3308
(4.0%)

Epithelioid trophoblastic tumor

Neoplasm

An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy.

3308
(4.0%)

Metaplastic carcinoma of the breast

Neoplasm

Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.

3308
(4.0%)

Langerhans cell sarcoma

Leukemia

3308
(4.0%)

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Horizontal nystagmus

Autosomal recessive inheritance