3308
(4.0%)

Cutaneous larva migrans

Edema

Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.

3308
(4.0%)

Vaginal carcinoma

Urinary retention

3308
(4.0%)

Familial progressive cardiac conduction defect

Syncope

A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

3308
(4.0%)

Hepatic cystic hamartoma

Cholelithiasis

Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).

3308
(4.0%)

Combined hepatocellular carcinoma and cholangiocarcinoma

Jaundice

3308
(4.0%)

Aggressive NK-cell leukemia

Hepatosplenomegaly

An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.

3308
(4.0%)

Acute myeloid leukemia with minimal differentiation

Pancytopenia

A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.

3308
(4.0%)

B-cell prolymphocytic leukemia

Meningitis

3308
(4.0%)

Autosomal recessive spastic paraplegia type 27

Sensorineural hearing impairment

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

3308
(4.0%)

AApoAIV amyloidosis

Renal tubular atrophy

A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.

3308
(4.0%)

Åland Islands eye disease

Astigmatism

X-linked inheritance X-linked recessive inheritance

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

3308
(4.0%)

Autosomal recessive spastic paraplegia type 39

Spastic paraplegia

Autosomal recessive inheritance

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

3308
(4.0%)

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Enlarged kidney

Autosomal recessive inheritance

This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.

3308
(4.0%)

Panniculitis-induced localized lipodystrophy

Antinuclear antibody positivity

Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.

3308
(4.0%)

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

Nystagmus

Autosomal recessive inheritance

A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

3308
(4.0%)

Spinocerebellar degeneration-corneal dystrophy syndrome

Visual impairment

Autosomal recessive inheritance

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.

3308
(4.0%)

Autosomal dominant optic atrophy plus syndrome

Sensorineural hearing impairment

A rare variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

3308
(4.0%)

Subcortical band heterotopia

Seizure

A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.

3308
(4.0%)

Blue cone monochromatism

Visual impairment

X-linked recessive inheritance

Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).

3308
(4.0%)

Thrombocytopenia with congenital dyserythropoietic anemia

Cryptorchidism

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

3308
(4.0%)

Retinohepatoendocrinologic syndrome

Optic disc pallor

Autosomal recessive inheritance

Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.

3308
(4.0%)

Hyperinsulinism due to INSR deficiency

Hyperinsulinemic hypoglycemia

Autosomal dominant inheritance Heterogeneous

Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.

3308
(4.0%)

Oculocutaneous albinism type 3

Strabismus

Autosomal recessive inheritance

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.

3308
(4.0%)

Congenital lethal erythroderma

Dry skin

Autosomal recessive inheritance

A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.

3308
(4.0%)

Autosomal recessive spastic paraplegia type 63

Spasticity

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

3308
(4.0%)

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Sensorineural hearing impairment

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

3308
(4.0%)

Cutaneous pseudolymphoma

Angiokeratoma

3308
(4.0%)

Triose phosphate-isomerase deficiency

Decreased nerve conduction velocity

Autosomal recessive inheritance

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

3308
(4.0%)

Congenital short bowel syndrome

obsolete Hypotrichosis

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

3308
(4.0%)

Acrokeratoelastoidosis of Costa

Hyperkeratosis

Autosomal dominant inheritance

A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later

3308
(4.0%)

Warty dyskeratoma

Hyperkeratosis

A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.

3308
(4.0%)

Myopic macular degeneration

Glaucoma

3308
(4.0%)

Ataxia-tapetoretinal degeneration syndrome

Visual impairment

Autosomal recessive inheritance Heterogeneous

A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.

3308
(4.0%)

Spastic paraplegia-facial-cutaneous lesions syndrome

Hyperpigmentation of the skin

A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.

3308
(4.0%)

Linear lichen planus

Hyperkeratosis

Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.

3308
(4.0%)

Congenital microcoria

Nephrotic syndrome

Autosomal dominant inheritance

Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.

3308
(4.0%)

Enteric anendocrinosis

Portal hypertension

Autosomal recessive inheritance

A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

3308
(4.0%)

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Visual impairment

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.

3308
(4.0%)

Hyperkeratosis lenticularis perstans

Pruritus

Autosomal dominant inheritance

3308
(4.0%)

Umbilical cord ulceration-intestinal atresia syndrome

Single umbilical artery

A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.