Brachydactyly, and Pancytopenia

Diseases related with Brachydactyly and Pancytopenia

In the following list you will find some of the most common rare diseases related to Brachydactyly and Pancytopenia that can help you solving undiagnosed cases.


Top matches:

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT


Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

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Other less relevant matches:

Low match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Low match RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2


Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Thrombocytopenia
  • Clinodactyly


SOURCES: OMIM MENDELIAN

More info about RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Low match GREENBERG DYSPLASIA


Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC


Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Is also known as facc|fac|fa3|fanconi pancytopenia, type 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Top 5 symptoms//phenotypes associated to Brachydactyly and Pancytopenia

Symptoms // Phenotype % cases
Bone marrow hypocellularity Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Short thumb Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Pancytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cafe-au-lait spot

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Leukemia Abnormality of cardiovascular system morphology Small for gestational age Horseshoe kidney Cryptorchidism Neoplasm Absent radius Chromosomal breakage induced by crosslinking agents Neutropenia Bruising susceptibility Absent thumb Intellectual disability Strabismus Abnormal heart morphology Microphthalmia Growth delay Abnormality of skin pigmentation Narrow chest Micrognathia Hypertelorism Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Complete duplication of thumb phalanx Duplicated collecting system Anemic pallor Reticulocytopenia Hypergonadotropic hypogonadism Epicanthus Renal agenesis Ectopic kidney

Rare Symptoms - Less than 30% cases


Frontal bossing Craniosynostosis Short neck Atrial septal defect Abnormality of the dentition Pectus excavatum Clinodactyly High forehead Postnatal growth retardation Smooth philtrum Polydactyly Congenital thrombocytopenia Anal atresia Intestinal malrotation Limb undergrowth Abnormal form of the vertebral bodies Hepatosplenomegaly Global developmental delay Acute myeloid leukemia Ventricular septal defect Abnormality of the skeletal system Abnormal facial shape Macrocephaly Syndactyly Sensorineural hearing impairment Generalized hypotonia Depressed nasal bridge Low-set ears Failure to thrive Chromosome breakage Embryonal neoplasm Medulloblastoma Acute monocytic leukemia Aplastic anemia Hyperpigmentation of the skin Neuroblastoma Nephroblastoma Amegakaryocytic thrombocytopenia Limited pronation/supination of forearm Ecchymosis Overlapping fingers Hydrocele testis Carcinoma Short diaphyses Abnormality of the kidney Pelvic kidney Midface retrusion Malar flattening Splenomegaly Edema Hepatomegaly Squamous cell carcinoma of the tongue Vitiligo Blepharophimosis Squamous cell carcinoma Hypoplasia of the radius Short palpebral fissure Hypopigmentation of the skin Bulbous nose Short middle phalanx of finger Petechiae Aspiration Radioulnar synostosis Stage 5 chronic kidney disease Asthma Full cheeks Nephropathy Short distal phalanx of finger Thin vermilion border Joint hypermobility Anterior rib punctate calcifications Hip dysplasia Hypermetropia Protruding ear Sternal punctate calcifications Rod-cone dystrophy Pneumonia Renal insufficiency Ectodermal dysplasia Abnormal ossification involving the femoral head and neck Finger clinodactyly Sagittal craniosynostosis Polyhydramnios Lymphadenopathy Supernumerary vertebral ossification centers Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Elevated serum creatinine Hepatic fibrosis Cutaneous finger syndactyly Nephronophthisis Chronic kidney disease Cone/cone-rod dystrophy Cutis laxa Recurrent pneumonia Severe short stature Micromelia Skeletal dysplasia Extramedullary hematopoiesis Hypoplastic vertebral bodies Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Diaphyseal thickening Metaphyseal cupping Ulnar deviation of the hand Sclerosis of skull base Lethal skeletal dysplasia 11 pairs of ribs Punctate vertebral calcifications Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Abnormal foot bone ossification Vertebral hypoplasia Misalignment of teeth Hepatic calcification Absent or minimally ossified vertebral bodies Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Abnormal pelvis bone ossification Ectopic ossification Aplasia/hypoplasia of the extremities Absent toenail Abnormal leukocyte morphology Severe hydrops fetalis Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Decreased skull ossification Calvarial skull defect Abnormality of the vertebral spinous processes Omphalocele Short ribs Lymphedema Hydrops fetalis Rhizomelia Short phalanx of finger Bowing of the long bones Cardiomegaly Sandal gap Postaxial hand polydactyly Hypoplasia of the maxilla Postaxial polydactyly Pulmonary hypoplasia Horizontal sacrum Platyspondyly Abnormality of the fingernails Laryngeal calcification Preeclampsia Abnormal joint morphology Barrel-shaped chest Postaxial foot polydactyly Hypertension Epiphyseal stippling Abnormality of the calcaneus Tracheal calcification Broad palm Disproportionate short-limb short stature Cystic hygroma Narrow nasal bridge Mesomelia Thoracic hypoplasia Flared metaphysis Pleural effusion Abnormal lung lobation Ectopic anus Duplication of thumb phalanx Hypoglycemia Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Intellectual disability, moderate Telecanthus Hydronephrosis Thin upper lip vermilion Abnormal cardiac septum morphology Pes planus Retrognathia Osteopenia Hypothyroidism Hypogonadism Osteoporosis Coloboma Attention deficit hyperactivity disorder Recurrent respiratory infections Tachycardia Decreased antibody level in blood Premature birth Postural instability Microcornea Single transverse palmar crease Iris coloboma Talipes Skin rash Facial asymmetry Toe syndactyly Dolichocephaly Hip dislocation Neurological speech impairment Finger syndactyly Prominent forehead Agenesis of corpus callosum Growth hormone deficiency Spasticity Optic atrophy Intrauterine growth retardation Wide nasal bridge Feeding difficulties Flexion contracture Ptosis Cataract Talipes equinovarus Muscular hypotonia Scoliosis Seizures Hypotelorism Brachycephaly Delayed skeletal maturation Downslanted palpebral fissures Ventriculomegaly Constipation Cerebral atrophy Clinodactyly of the 5th finger Inguinal hernia Patent ductus arteriosus Hypospadias Hernia Recurrent infections Immunodeficiency Anteverted nares Long philtrum Short nose Intellectual disability, mild Behavioral abnormality Congestive heart failure Hydrocephalus Webbed neck Otitis media Refractory anemia Nuclear cataract Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Broad hallux phalanx Urethral stenosis Mitral stenosis Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Long hallux U-Shaped upper lip vermilion Double outlet right ventricle Arteria lusoria Myeloid leukemia Preaxial hand polydactyly Facial palsy Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Bilateral camptodactyly Internal hemorrhage Central hypothyroidism Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Missing ribs Abnormal eyelash morphology Microdontia Leukodystrophy Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Spina bifida Aortic valve stenosis Short toe Infantile muscular hypotonia Sinusitis Amblyopia Pachygyria Coarctation of aorta Eczema Dehydration Tachypnea Schizophrenia Bipolar affective disorder Hypoplastic left heart Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Aplasia/Hypoplasia of the eyebrow Pyloric stenosis Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Patchy variation in bone mineral density



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