Cleft palate, and Acute myeloid leukemia

Diseases related with Cleft palate and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Cleft palate and Acute myeloid leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

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Other less relevant matches:

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Acute myeloid leukemia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Acute myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Ventricular septal defect Atrial septal defect Global developmental delay Myelodysplasia Hypospadias Anemia Thrombocytopenia Cataract Neutropenia Cleft upper lip Upslanted palpebral fissure Retrognathia Hydrocephalus Cryptorchidism Acute leukemia Small for gestational age High palate Lymphoma Sloping forehead Immunodeficiency Nystagmus Ataxia Short neck Abnormal facial shape Acute lymphoblastic leukemia Intellectual disability, moderate Hearing impairment Fatigue Abnormal heart morphology Downslanted palpebral fissures Frontal bossing Reticulocytopenia Depressed nasal bridge Severe short stature Low-set ears Headache Cafe-au-lait spot Abnormality of the skeletal system Scoliosis Chromosome breakage Abnormality of the kidney Seizures Acute monocytic leukemia Myeloid leukemia Kyphosis Postnatal growth retardation Telangiectasia Carcinoma Short thumb Pancytopenia Triphalangeal thumb

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Abnormal hair quantity Polydactyly Abnormality of the dentition Clinodactyly of the 5th finger Persistence of hemoglobin F Pes cavus Muscle weakness Skeletal dysplasia Pes planus Hyperactivity Posteriorly rotated ears Hypoplastic anemia Clinodactyly Delayed skeletal maturation Generalized hypotonia Upper limb undergrowth Generalized tonic-clonic seizures Oligohydramnios Rhabdomyosarcoma Multiple cafe-au-lait spots Hydroureter Anal atresia Combined immunodeficiency Renal agenesis Tetralogy of Fallot Choanal atresia Hypothyroidism Abnormality of the genital system Primary amenorrhea Recurrent urinary tract infections Abnormality of the urinary system Amenorrhea Dandy-Walker malformation Hypopigmented skin patches Umbilical hernia Hearing abnormality Hip dislocation Abnormality of the hair Facial asymmetry Mild short stature Partial duplication of thumb phalanx Prominent nose Convex nasal ridge Short nose Severe intrauterine growth retardation Abnormality of chromosome stability Patent ductus arteriosus Epicanthus Abnormality of the uterus B-cell lymphoma Ventriculomegaly Arteriovenous malformation Abnormal eyelid morphology Abnormality of cardiovascular system morphology Macrocephaly Renal hypoplasia/aplasia Cranial nerve paralysis Edema Proptosis Narrow chest Melanoma Abnormal cardiac septum morphology Pallor Cleft lip Congestive heart failure Abnormality of skin pigmentation Glaucoma Increased intracranial pressure Sarcoma Chronic diarrhea Cellulitis Lymphopenia Astrocytoma Anemia of inadequate production Weight loss Nausea and vomiting Depressed nasal ridge Visual impairment Diarrhea Pain Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Hand polydactyly Macrocytic anemia Absent thumb Osteosarcoma Vomiting Bone marrow hypocellularity Abnormality of the hand Malar flattening Autism Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Cleft soft palate Fetal distress Tracheomalacia Cellular immunodeficiency Long penis Decreased proportion of CD4-positive T cells Cavernous hemangioma Enlarged polycystic ovaries Esophagitis Hamartomatous polyposis Papilloma Ovarian cyst Wide nasal bridge Furrowed tongue Muscular dystrophy Feeding difficulties in infancy Megalencephaly High forehead Meningioma Hydrocele testis Micropenis Colonic diverticula Anteverted nares Brachycephaly Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Intestinal polyposis Bone cyst Long philtrum Adenoma sebaceum Osteoporosis Mitral regurgitation Acrokeratosis Follicular thyroid carcinoma Foot dorsiflexor weakness Endometrial carcinoma Gingival overgrowth Recurrent otitis media Colorectal polyposis Progressive macrocephaly Eczema Pseudopapilledema Mucosal telangiectasiae Transitional cell carcinoma of the bladder Lower limb hyperreflexia Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Prominent forehead Ductal carcinoma in situ Merkel cell skin cancer Varicocele Thyroid adenoma Thick lower lip vermilion Angioid streaks of the fundus Ventricular hypertrophy Mitral valve prolapse Migraine Bifid uvula Delayed puberty Subcutaneous lipoma Autistic behavior Multiple trichilemmomata Abnormality of the penis Arrhythmia Short 3rd metacarpal Intestinal polyp Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Ovarian carcinoma Lobular carcinoma in situ Short ribs Severe global developmental delay Pneumonia Cutaneous photosensitivity Otitis media Neurodegeneration Hemolytic anemia Prominent nasal bridge Attention deficit hyperactivity disorder Mental deterioration Abnormality of the nervous system Hydronephrosis Macrotia Respiratory failure Recurrent respiratory infections Respiratory insufficiency Bronchiectasis Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Abnormality of bone marrow cell morphology Neonatal short-limb short stature Abnormal oral mucosa morphology Abnormality of the face Sinusitis Epispadias Recurrent sinopulmonary infections Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Glioma Medulloblastoma Recurrent bronchitis Low anterior hairline Anal stenosis Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Horizontal ribs Abnormality of female internal genitalia Wide nose Premature chromatid separation Hypodontia Delayed eruption of teeth Postaxial polydactyly Short distal phalanx of finger Thin vermilion border Micromelia Genu valgum Nail dystrophy Pectus carinatum Talipes equinovarus Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Cerebral hypoplasia Nail dysplasia Triangular mouth Short sternum Mild microcephaly Multiple renal cysts Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Hyperpigmentation of the skin Intellectual disability, profound Ambiguous genitalia Generalized myoclonic seizures Renal cyst Ectodermal dysplasia Microdontia Thoracic dysplasia Thoracic hypoplasia Hypoplastic iliac wing Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Short thorax Hypoplastic left heart Limb undergrowth Dextrocardia Emphysema Hypoplastic toenails Cubitus valgus Abnormality of pelvic girdle bone morphology Short long bone Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Prolactin excess Situs inversus totalis Heterotopia Postaxial hand polydactyly Skin tags Anemic pallor Papilledema Tapered finger Patent foramen ovale Sandal gap Narrow palate Elbow flexion contracture Narrow face Dental crowding Hypoplasia of dental enamel Pachygyria Cerebellar vermis hypoplasia Dental malocclusion Triangular face Single transverse palmar crease Dislocated radial head Thick eyebrow Talipes Pulmonic stenosis Synophrys Microtia Blepharophimosis Abnormality of the pinna Hyperlordosis Hypoplasia of the corpus callosum Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Clitoral hypertrophy Proportionate short stature Bifid thoracic vertebrae Hyperreflexia Finger syndactyly Abnormality of the liver Irritability Abnormality of the eye Hypertrophic cardiomyopathy Diabetes mellitus Hypogonadism Microphthalmia Renal insufficiency Respiratory distress Fever Hepatomegaly Cone-shaped epiphyses of the phalanges of the hand Ptosis Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Abnormal cortical gyration Abnormally large globe Transient erythroblastopenia Elevated red cell adenosine deaminase activity Toe syndactyly Anisocoria Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Ocular pain Hyphema Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Uveitis Neurofibromas Anorexia Postural instability Skin rash Visual loss Blindness Neoplasm of the eye Ewing sarcoma Branchial cyst Hypoplasia of the radius Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Hypoplastic ilia Thrombocytosis Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormal dermatoglyphics Pineal cyst Hydrops fetalis Coarctation of aorta Webbed neck Premature birth Nausea Lethargy Flexion contracture Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Dolichocephaly Abnormality of the foot Abnormality of the vasculature Pectus excavatum Overgrowth Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Papule Proximal muscle weakness Narrow mouth Recurrent infections Broad thumb Dilatation Intellectual disability, mild Myopathy Tremor Myopia Brachydactyly Motor delay Delayed speech and language development Cognitive impairment Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Intention tremor Subcutaneous nodule Aplasia/Hypoplasia of the uvula Abnormality of the thyroid gland Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Macule Exotropia Cutis marmorata Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Hemangioma Drooling Neoplasm of the skin Gynecomastia Aplasia/Hypoplasia of fingers Neoplasm of head and neck Astigmatism Azoospermia Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of vision Reduced bone mineral density Leukopenia External ear malformation Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Aganglionic megacolon Short palpebral fissure Hypopigmentation of the skin Bruising susceptibility Vertigo Irregular hyperpigmentation Abnormality of the ulna Deficient excision of UV-induced pyrimidine dimers in DNA Meckel diverticulum Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Duplicated collecting system Abnormality of the upper limb Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Progressive vitiligo



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Arachnodactyly, related diseases and genetic alterations Delayed speech and language development and Patent ductus arteriosus, related diseases and genetic alterations Skeletal muscle atrophy and Paralysis, related diseases and genetic alterations Strabismus and Thin skin, related diseases and genetic alterations

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