697
(42.9%)

platelet-type bleeding disorder 9

Bruising susceptibility

Autosomal dominant inheritance

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.

697
(42.9%)

epidermodysplasia verruciformis, susceptibility to, 4

Burkitt lymphoma Facial erythema

Autosomal recessive inheritance

697
(42.9%)

Eosinophilopenia

Abnormality of blood and blood-forming tissues Urticaria

697
(42.9%)

alpha-2-plasmin inhibitor deficiency

Bruising susceptibility

Autosomal recessive inheritance

Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

697
(42.9%)

factors VIII, IX and XI, combined deficiency of

Bruising susceptibility

Autosomal dominant inheritance

697
(42.9%)

primary release disorder of platelets

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

697
(42.9%)

bleeding diathesis due to thromboxane synthesis deficiency

Bruising susceptibility Epistaxis

Autosomal dominant inheritance

697
(42.9%)

orthostatic hypotensive disorder, Streeten type

Bruising susceptibility

Autosomal dominant inheritance

697
(42.9%)

platelet-type bleeding disorder 20

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.

697
(42.9%)

plasma clot retraction factor, deficiency of

Bruising susceptibility

Autosomal recessive inheritance

697
(42.9%)

factor XIII, b subunit, deficiency of

Bruising susceptibility

Autosomal recessive inheritance

697
(42.9%)

platelet-type bleeding disorder 8

Bruising susceptibility Epistaxis

Autosomal recessive inheritance

P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.

697
(42.9%)

Passovoy factor defect

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

697
(42.9%)

von Willebrand disease 2

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance Autosomal recessive inheritance

Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).

697
(42.9%)

purpura simplex

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

697
(42.9%)

complement component 4a deficiency

Glomerulonephritis Purpura

Autosomal recessive inheritance

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.

697
(42.9%)

cerebral cavernous malformation 2

Cerebral hemorrhage Telangiectasia

Autosomal dominant inheritance Heterogeneous

Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.

697
(42.9%)

Quebec platelet disorder

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.

697
(42.9%)

platelet-type bleeding disorder 12

Bruising susceptibility Menorrhagia

Autosomal dominant inheritance

An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

697
(42.9%)

platelet-type bleeding disorder 11

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.

697
(42.9%)

Hermansky-Pudlak syndrome 3

Bruising susceptibility Visual impairment

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.

697
(42.9%)

hemophilia A

Bruising susceptibility

Autosomal dominant inheritance X-linked recessive inheritance

Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.

697
(42.9%)

Ehlers-Danlos syndrome, fibronectinemic type

Petechiae Thin skin

Autosomal recessive inheritance

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.

697
(42.9%)

vitamin K-dependent clotting factors, combined deficiency of, type 1

Bruising susceptibility Epistaxis

Autosomal recessive inheritance

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

697
(42.9%)

factor XIII, A subunit, deficiency of

Bruising susceptibility Epistaxis

Autosomal recessive inheritance

697
(42.9%)

inflammatory skin and bowel disease, neonatal, 1

Blepharitis Eosinophilia Erythema

Autosomal recessive inheritance

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.

697
(42.9%)

congenital factor V deficiency

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.

697
(42.9%)

hemophilia A with vascular abnormality

Bruising susceptibility

X-linked inheritance

697
(42.9%)

Hermansky-Pudlak syndrome 7

Bruising susceptibility Epistaxis

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.

697
(42.9%)

Ehlers-Danlos syndrome, periodontal type 2

Bruising susceptibility Gingival bleeding Inguinal hernia

Autosomal dominant inheritance

697
(42.9%)

thrombophilia due to protein S deficiency, autosomal recessive

Blindness Purpura

Autosomal recessive inheritance

697
(42.9%)

retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Poikiloderma Premature graying of hair Subarachnoid hemorrhage

Autosomal recessive inheritance

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.

697
(42.9%)

Glanzmann thrombasthenia 1

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia

697
(42.9%)

congenital prothrombin deficiency

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.

697
(42.9%)

thrombophilia due to protein C deficiency, autosomal recessive

Purpura

Autosomal recessive inheritance

697
(42.9%)

Bernard-Soulier syndrome

Menorrhagia Purpura

Autosomal recessive inheritance

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

697
(42.9%)

von Willebrand disease 3

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).

697
(42.9%)

Hermansky-Pudlak syndrome 4

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.

697
(42.9%)

Hermansky-Pudlak syndrome 5

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.

697
(42.9%)

hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Bruising susceptibility Epistaxis

Autosomal dominant inheritance

This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.

697
(42.9%)

Ehlers-Danlos syndrome, cardiac valvular type

Bruising susceptibility Inguinal hernia

Autosomal recessive inheritance

Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

697
(42.9%)

pulmonary hypertension, primary, 1

Abnormal thrombosis Hypertension Telangiectasia

Autosomal dominant inheritance

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.

697
(42.9%)

platelet-type bleeding disorder 17

Epistaxis Petechiae

Autosomal dominant inheritance Autosomal recessive inheritance

An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.

697
(42.9%)

radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Petechiae Sensorineural hearing impairment

Autosomal dominant inheritance

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.

697
(42.9%)

osteogenesis imperfecta type 1

Bruising susceptibility Otosclerosis

Autosomal dominant inheritance

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

697
(42.9%)

Ehlers-Danlos syndrome, classic type, 2

Bruising susceptibility Epicanthus

Autosomal dominant inheritance

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.

697
(42.9%)

von Willebrand disease 1

Abnormality of the genitourinary system Bruising susceptibility Gastrointestinal angiodysplasia Menorrhagia

Autosomal dominant inheritance

Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

697
(42.9%)

Hermansky-Pudlak syndrome 6

Bruising susceptibility Epistaxis

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.

697
(42.9%)

Ehlers-Danlos syndrome due to tenascin-X deficiency

Ambiguous genitalia, female Bruising susceptibility

Autosomal recessive inheritance

697
(42.9%)

DNA ligase IV deficiency

Cryptorchidism Cutaneous photosensitivity Telangiectasia Thrombocytopenia

Autosomal recessive inheritance

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

697
(42.9%)

Ehlers-Danlos syndrome, arthrochalasis type

Bruising susceptibility Malar flattening

Autosomal dominant inheritance

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

697
(42.9%)

Hermansky-Pudlak syndrome 8

Bruising susceptibility Menorrhagia

Autosomal recessive inheritance

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.

697
(42.9%)

ehlers-danlos syndrome, arthrochalasia type, 2

Bladder diverticulum Bruising susceptibility

Autosomal dominant inheritance

697
(42.9%)

Ehlers-Danlos syndrome, periodontal type 1

Bruising susceptibility Gingival bleeding Inguinal hernia

Autosomal dominant inheritance

697
(42.9%)

pigmented nodular adrenocortical disease, primary, 2

Bruising susceptibility Round face

Autosomal dominant inheritance

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.

697
(42.9%)

pigmented nodular adrenocortical disease, primary, 1

Bruising susceptibility Round face

Autosomal dominant inheritance

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.

697
(42.9%)

diaphyseal medullary stenosis-bone malignancy syndrome

Bruising susceptibility Osteopenia

Autosomal dominant inheritance

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

697
(42.9%)

Hermansky-Pudlak syndrome 1

Bruising susceptibility Gingival bleeding Renal insufficiency

Autosomal recessive inheritance Heterogeneous

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.

697
(42.9%)

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Bladder diverticulum Bruising susceptibility

Autosomal recessive inheritance

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

697
(42.9%)

ACTH-independent macronodular adrenal hyperplasia 1

Bruising susceptibility Round face

Somatic mutation Sporadic

697
(42.9%)

ehlers-danlos syndrome, classic-like, 2

Bruising susceptibility Inguinal hernia

Autosomal recessive inheritance

697
(42.9%)

microcephalic osteodysplastic dysplasia, Saul-Wilson type

Neutropenia Prominent superficial veins Wide anterior fontanel

Autosomal dominant inheritance

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.

697
(42.9%)

progeroid and marfanoid aspect-lipodystrophy syndrome

Bruising susceptibility Tall stature

Autosomal dominant inheritance

697
(42.9%)

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Azoospermia Cerebral hemorrhage Premature graying of hair

X-linked recessive inheritance

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

697
(42.9%)

megalencephaly-capillary malformation-polymicrogyria syndrome

Cutis marmorata Hydrocephalus Leukemia

Somatic mutation Sporadic

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

697
(42.9%)

craniofaciofrontodigital syndrome

Ecchymosis Macrocephaly Palmoplantar cutis laxa

Autosomal dominant inheritance Sporadic

Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).

697
(42.9%)

connective tissue disorder due to lysyl hydroxylase-3 deficiency

Bruising susceptibility Malar flattening

Autosomal recessive inheritance

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

697
(42.9%)

Loeys-Dietz syndrome 4

Bruising susceptibility Inguinal hernia

Autosomal dominant inheritance

Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.

697
(42.9%)

polymicrogyria with or without vascular-type ehlers-danlos syndrome

Bruising susceptibility Thin vermilion border

Autosomal recessive inheritance

697
(42.9%)

Ehlers-Danlos syndrome, classic type, 1

Bruising susceptibility Inguinal hernia

Autosomal dominant inheritance

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.

697
(42.9%)

arterial tortuosity syndrome

Bruising susceptibility Inguinal hernia

Autosomal recessive inheritance

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

697
(42.9%)

Ehlers-Danlos syndrome, spondylocheirodysplastic type

Bifid uvula Bruising susceptibility

Autosomal recessive inheritance

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

697
(42.9%)

occipital horn syndrome

Bladder diverticulum Bruising susceptibility

X-linked recessive inheritance

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

697
(42.9%)

incontinentia pigmenti

Erythema Microcephaly Retinal hemorrhage Retinal vascular proliferation

X-linked dominant inheritance

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

697
(42.9%)

autosomal dominant Ehlers-Danlos syndrome, vascular type

Bruising susceptibility Inguinal hernia

Autosomal dominant inheritance

The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.

697
(42.9%)

Rienhoff syndrome

Bruising susceptibility Inguinal hernia

Autosomal dominant inheritance

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.

697
(42.9%)

aneurysm-osteoarthritis syndrome

Bruising susceptibility Inguinal hernia

Autosomal dominant inheritance

697
(42.9%)

Ehlers-Danlos syndrome, musculocontractural type 1

Bruising susceptibility Cryptorchidism

Autosomal recessive inheritance

779
(42.6%)

cardiac-urogenital syndrome

Accessory spleen Cryptorchidism Hepatopulmonary fusion

Autosomal dominant inheritance

779
(42.6%)

Schinzel-Giedion syndrome

Hepatoblastoma Scrotal hypoplasia Splenopancreatic fusion

Autosomal dominant inheritance

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.

781
(42.6%)

branchiooculofacial syndrome

Cryptorchidism Duplication of internal organs Premature graying of hair

Autosomal dominant inheritance

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

782
(42.5%)

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Abnormality of the kidney Nevus sebaceous Polysplenia

Somatic mosaicism Autosomal dominant contiguous gene syndrome

Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.

782
(42.5%)

RAB23-related Carpenter syndrome

Cryptorchidism Polysplenia Sacral dimple

Autosomal recessive inheritance

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.

784
(42.4%)

malignant atrophic papulosis

Gastrointestinal hemorrhage Papule Pleural effusion Stroke

Autosomal dominant inheritance

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.

784
(42.4%)

pheochromocytoma-islet cell tumor syndrome

Cafe-au-lait spot Cerebral hemorrhage Hypertensive retinopathy Proteinuria

Autosomal dominant inheritance

784
(42.4%)

phaeochromocytoma

Cafe-au-lait spot Cerebral hemorrhage Hemangioma Proteinuria

Autosomal dominant inheritance

784
(42.4%)

Menkes disease

Cutis laxa Hypothermia Intracranial hemorrhage

X-linked recessive inheritance

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

784
(42.4%)

autosomal recessive inherited pseudoxanthoma elasticum

Hypermelanotic macule Peau d'orange Retinal hemorrhage Stroke

Autosomal recessive inheritance

An autosomal recessive form of PXE.

784
(42.4%)

pseudoxanthoma elasticum, forme fruste

Cerebral hemorrhage Peau d'orange Retinal hemorrhage Yellow papule

Autosomal dominant inheritance

An autosomal dominant form of PXE.

784
(42.4%)

Yunis-Varon syndrome

Abnormality of blood and blood-forming tissues Hydrops fetalis Single transverse palmar crease Tetralogy of Fallot

Autosomal recessive inheritance

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

784
(42.4%)

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Lymphedema Nevus Patent ductus arteriosus Thrombocytopenia

Autosomal dominant inheritance

792
(42.3%)

cerebral cavernous malformation 1

Abnormality of the skin Hepatic vascular malformations Intracranial hemorrhage

Autosomal dominant inheritance Heterogeneous

792
(42.3%)

dyskeratosis congenita, autosomal recessive 2

Cirrhosis Testicular atrophy Thrombocytopenia

Autosomal recessive inheritance

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.

792
(42.3%)

dyskeratosis congenita, autosomal recessive 1

Hepatic fibrosis Microcephaly Thrombocytopenia

Autosomal recessive inheritance

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.

795
(42.2%)

bone marrow failure syndrome 3

Cryptorchidism Exocrine pancreatic insufficiency Hyperkeratosis Pancytopenia

Autosomal recessive inheritance

Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.

796
(42.2%)

polycystic liver disease 1

Ascites Elevated alkaline phosphatase Polycystic liver disease Renal cyst

Autosomal dominant inheritance

A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.

796
(42.2%)

short-rib thoracic dysplasia 7 with or without polydactyly

Ascites Hepatic fibrosis Hydrops fetalis Hypospadias

Autosomal recessive inheritance

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

798
(42.2%)

hereditary North American Indian childhood cirrhosis

Portal hypertension Prolonged neonatal jaundice

Autosomal recessive inheritance

Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.

798
(42.2%)

neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome

Jaundice

Autosomal dominant inheritance

798
(42.2%)

congenital isolated adrenocorticotropic hormone deficiency (disease)

Adrenal hypoplasia Jaundice

Autosomal recessive inheritance

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.