3308
(4.0%)

Familial drusen

Glomerulonephritis

Autosomal dominant inheritance

3308
(4.0%)

Congenital laryngeal web

Laryngomalacia

Autosomal dominant inheritance

A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.

3308
(4.0%)

Congenital enterocyte heparan sulfate deficiency

Edema

Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.

3308
(4.0%)

Autosomal erythropoietic protoporphyria

Eczema

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

3308
(4.0%)

Hyper-beta-alaninemia

Seizure

Autosomal recessive inheritance

A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopahty. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.

3308
(4.0%)

Birt-Hogg-Dubé syndrome

Multiple lipomas

Autosomal dominant inheritance

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

3308
(4.0%)

Aromatic L-amino acid decarboxylase deficiency

Seizure

Autosomal recessive inheritance

A very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

3308
(4.0%)

Episodic ataxia with slurred speech

Nystagmus

Autosomal dominant inheritance

Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.

3308
(4.0%)

Familial cutaneous collagenoma

Abnormality of skin pigmentation

Autosomal dominant inheritance

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.

3308
(4.0%)

Severe hereditary thrombophilia due to congenital protein C deficiency

Thin skin

Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

3308
(4.0%)

Congenital primary megaureter

Recurrent urinary tract infections

Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.

3308
(4.0%)

Encephalopathy due to prosaposin deficiency

Abnormality of eye movement

Autosomal recessive inheritance

A lysosomal storage disease belonging to the group of sphingolipidoses.

3308
(4.0%)

Pediatric hepatocellular carcinoma

Cirrhosis

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

3308
(4.0%)

Jervell and Lange-Nielsen syndrome

Sudden cardiac death

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

3308
(4.0%)

Secondary sclerosing cholangitis

Cholecystitis

A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.

3308
(4.0%)

Angioma serpiginosum

Purpura

A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.

3308
(4.0%)

Hairy cell leukemia variant

Splenomegaly

Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C) (see this term).

3308
(4.0%)

Pulmonary capillary hemangiomatosis

Cryptorchidism

Autosomal recessive inheritance

3308
(4.0%)

Hepatitis delta

Cirrhosis

Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.

3308
(4.0%)

Lipoprotein glomerulopathy

Proteinuria

Autosomal dominant inheritance

3308
(4.0%)

Clear cell adenocarcinoma of the ovary

Confusion

Clear cell adenocarcinoma of ovary is a rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.

3308
(4.0%)

Angiocentric glioma

Hydrocephalus

An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.

3308
(4.0%)

Paget disease of the nipple

Eczema

Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.

3308
(4.0%)

Phyllodes tumor of the breast

Hypoglycemic coma

Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.

3308
(4.0%)

Hantavirus pulmonary syndrome

Renal insufficiency

3308
(4.0%)

Anaplastic ganglioglioma

Papilledema

3308
(4.0%)

Schilder disease

Visual loss

Autosomal recessive inheritance

Schilder's disease is a progressive demyelinating disorder of the central nervous system.

3308
(4.0%)

Follicular dendritic cell sarcoma

Polyneuropathy

3308
(4.0%)

Urocanic aciduria

Ataxia

Autosomal recessive inheritance

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

3308
(4.0%)

Hawkinsinuria

Hypothyroidism

Autosomal dominant inheritance

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

3308
(4.0%)

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

Strabismus

A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.

3308
(4.0%)

Generalized epilepsy-paroxysmal dyskinesia syndrome

Esotropia

Autosomal dominant inheritance

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

3308
(4.0%)

Congenital isolated ACTH deficiency

Adrenal hypoplasia

Autosomal recessive inheritance

3308
(4.0%)

46,XX testicular disorder of sex development

Male hypogonadism

Y-linked inheritance

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

3308
(4.0%)

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Nystagmus

Autosomal recessive inheritance

An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

3308
(4.0%)

Cerebellar ataxia, Cayman type

Abnormal retinal morphology

Autosomal recessive inheritance

A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.

3308
(4.0%)

Dystrophic epidermolysis bullosa pruriginosa

Thin skin

Autosomal dominant inheritance Autosomal recessive inheritance

Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.

3308
(4.0%)

Spinocerebellar ataxia type 11

Horizontal nystagmus

Autosomal dominant inheritance

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.

3308
(4.0%)

Idiopathic localized lipodystrophy

Hyperpigmentation of the skin

Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).

3308
(4.0%)

Benign occipital epilepsy

Seizure

Autosomal dominant inheritance

Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.