Cleft palate, and Myeloid leukemia

Diseases related with Cleft palate and Myeloid leukemia

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


Top matches:

Low 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

Low 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

Low 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

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Other less relevant matches:

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


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:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

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 PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Cleft palate and Myeloid leukemia

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

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Anemia

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormal facial shape Atrial septal defect Depressed nasal bridge Failure to thrive Microcephaly Frontal bossing Neutropenia Epicanthus Chromosome breakage Scoliosis Cryptorchidism Myelodysplasia Patent ductus arteriosus Thrombocytopenia Congestive heart failure Downslanted palpebral fissures Edema Dolichocephaly Acute myeloid leukemia Hypertrophic cardiomyopathy Reticulocytopenia Weight loss Abnormality of the skeletal system Macrocephaly Pain Facial asymmetry Seizures Low-set ears Pulmonic stenosis Kyphosis Clinodactyly Severe short stature Posteriorly rotated ears Upslanted palpebral fissure Absent thumb Triphalangeal thumb Hypogonadism Pancytopenia Nystagmus Fatigue Short neck Vomiting Abnormal heart morphology Retrognathia Cleft lip Abnormal cardiac septum morphology Short nose Cognitive impairment Ptosis Webbed neck Fever Postnatal growth retardation Ventriculomegaly Hydrocephalus Short thumb Bone marrow hypocellularity

Rare Symptoms - Less than 30% cases


Tracheoesophageal fistula Headache Glucose intolerance Diabetes mellitus Hyperinsulinemia Abnormality of the urinary system Azoospermia Microphthalmia Insulin resistance Proptosis Umbilical hernia Lymphoma Hypopigmentation of the skin Anal atresia Cataract Cafe-au-lait spot Recurrent urinary tract infections Hyperreflexia Abnormality of cardiovascular system morphology Oligohydramnios Cystic hygroma Bruising susceptibility Tetralogy of Fallot Abnormality of the genital system Hypertension Abnormality of blood and blood-forming tissues Cor pulmonale Failure to thrive in infancy Poor suck Bicuspid aortic valve Neuroblastoma Clumsiness Primary amenorrhea Ventricular hypertrophy Amenorrhea Hypopnea Infantile muscular hypotonia Dilatation Intellectual disability, mild Myopia Feeding difficulties Juvenile myelomonocytic leukemia Pectus excavatum Polyhydramnios Mitral valve prolapse Radial deviation of finger Sleep apnea Delayed puberty Micropenis Autism Osteoporosis Abnormality of femur morphology Abnormality of chromosome stability Prominent forehead Abnormality of the dentition Almond-shaped palpebral fissure Full cheeks Generalized hypotonia Recurrent otitis media Delayed speech and language development Motor delay Brachydactyly Obesity Gastroesophageal reflux Skeletal dysplasia Abnormality of the nervous system Apnea Sleep disturbance Hearing impairment Pterygium Small for gestational age Hyperactivity Clinodactyly of the 5th finger Increased mean corpuscular volume Hypoplasia of the radius Aplastic anemia Sloping forehead Abnormality of the hand Dental malocclusion Triangular face Patent foramen ovale Tapered finger Pes planus 11 pairs of ribs Hyperlordosis Macrocytic anemia Abnormality of the pinna Hip dislocation Microtia Depressed nasal ridge Pes cavus Coarctation of aorta Acute monocytic leukemia Hypospadias Persistence of hemoglobin F Cleft upper lip Hypoplastic anemia Pallor Flexion contracture Partial duplication of thumb phalanx Iris hypopigmentation Overweight Central hypotonia Hypoventilation Generalized hypopigmentation Multiple lentigines Drusen Nonimmune hydrops fetalis Synovitis Shield chest Malignant hyperthermia Abnormality of lipid metabolism Restrictive cardiomyopathy Atrial flutter Schwannoma Asymmetry of the thorax Hypoplasia of the fovea Neurofibrosarcoma Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Ocular albinism Hypothermia Acrocyanosis Panuveitis Reduced factor XII activity Optic disc hypoplasia Superior pectus carinatum Abdominal obesity Amegakaryocytic thrombocytopenia Oligomenorrhea Hypoplastic aortic arch Lymphangioma Reduced factor XIII activity Nasogastric tube feeding Esotropia Leukocytosis Arnold-Chiari type I malformation Cardiomyopathy Broad forehead Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Abdominal pain Rod-cone dystrophy Constipation Hernia Splenomegaly Temperature instability Central adrenal insufficiency High, narrow palate Sensorineural hearing impairment Dysplastic pulmonary valve Atrial septal dilatation Hypoplastic labia minora Psychotic episodes Hypoplastic nasal bridge Narrow palm Poor gross motor coordination Myeloproliferative disorder Sagittal craniosynostosis Hypotrichosis Triangular mouth Gonadal dysgenesis Arnold-Chiari malformation Abnormality of the vertebral column Male infertility Neurofibromas Abnormality of color vision Postductal coarctation of the aorta Abnormality of the coagulation cascade Poor fine motor coordination Cubitus valgus Elevated alkaline phosphatase Anteverted ears Clitoral hypoplasia Abdominal distention Frontal upsweep of hair Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Erysipelas Low posterior hairline Disseminated intravascular coagulation Wide intermamillary distance Abnormal bleeding Preductal coarctation of the aorta Rectovaginal fistula Wide nasal bridge Neonatal hypotonia Arachnodactyly Infertility Genu valgum Carious teeth Hypermetropia Large hands Pruritus Stroke Inflammation of the large intestine Attention deficit hyperactivity disorder Albinism Polymicrogyria Skeletal muscle hypertrophy Hypoglycemia Photophobia Thin upper lip vermilion Adrenal insufficiency Osteopenia Decreased muscle mass Narrow mouth Truncal obesity External genital hypoplasia Emotional lability Precocious puberty Recurrent respiratory infections Psychosis Gastrointestinal hemorrhage Febrile seizures Hip dysplasia Specific learning disability Abnormality of the cardiovascular system Narrow forehead Sepsis Decreased fetal movement Short foot Type II diabetes mellitus Cutaneous photosensitivity Short palm Small hand Bradycardia Downturned corners of mouth Aortic valve stenosis Increased body weight Hypogonadotrophic hypogonadism Spontaneous abortion Narrow palpebral fissure Scrotal hypoplasia Nasal speech Respiratory failure Hyporeflexia Hypopigmentation of hair Generalized tonic-clonic seizures Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Eczema Polydactyly Lower limb hypertonia Impaired pain sensation Hypoplastic sacrum Forearm undergrowth Growth hormone deficiency Striae distensae Depressed nasal tip Esophageal atresia Renal hypoplasia Pulmonary embolism Hydronephrosis Ectopic calcification Giant platelets Syndactyly Tracheomalacia Behavioral abnormality Myopathy Intellectual disability, severe Talipes equinovarus Muscular hypotonia Fetal distress Cleft soft palate Polyphagia Esophagitis Acute leukemia Melanoma Median cleft palate Mitral regurgitation Thick lower lip vermilion Migraine Bifid uvula Narrow nasal bridge Autistic behavior Arrhythmia Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Respiratory tract infection Lumbar hyperlordosis Scaphocephaly Hypothyroidism Vertigo Astigmatism Abnormality of the foot Toe syndactyly Finger syndactyly Abnormality of the liver Irritability Abnormality of the kidney Abnormality of the eye Carcinoma Renal insufficiency Renal agenesis Respiratory distress Hepatomegaly Visual impairment Ataxia Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Abnormality of skin pigmentation Short palpebral fissure Selective tooth agenesis Abnormality of vision Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Multiple cafe-au-lait spots Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Reduced bone mineral density Choanal atresia Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Telangiectasia Aganglionic megacolon Lumbar scoliosis Abnormal cortical gyration Abnormality of the ulna Thrombocytosis Elevated red cell adenosine deaminase activity Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production Osteosarcoma Hypoplastic ilia Vertebral fusion Transient erythroblastopenia Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormal dermatoglyphics Hydrops fetalis Premature birth Nausea Nausea and vomiting Narrow chest Lethargy Glaucoma Bifid thoracic vertebrae Hypoplastic coccygeal vertebrae Abnormally large globe Hypoplasia of dental enamel Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Dislocated radial head Clitoral hypertrophy Sandal gap Narrow palate Elbow flexion contracture Narrow face Dental crowding Pachygyria Hypoplastic sacral vertebrae Cerebellar vermis hypoplasia Convex nasal ridge Prominent nose Single transverse palmar crease Thick eyebrow Talipes Synophrys Blepharophimosis Intellectual disability, moderate Delayed skeletal maturation Hypoplasia of the corpus callosum Abnormal eyelid morphology Arteriovenous malformation Deep philtrum Bowel incontinence Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Disproportionate short stature Tibial bowing Limited elbow extension Short femoral neck Communicating hydrocephalus Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Acanthosis nigricans Generalized joint laxity Upper airway obstruction Clonus Iritis Craniosynostosis Anteverted nares Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Cervical cord compression Dysuria Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Central apnea Paraparesis Short toe B-cell lymphoma Duodenal stenosis 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 Meckel diverticulum Duplicated collecting system Primary hypothyroidism Prolonged G2 phase of cell cycle 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 Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Abnormality of the upper limb Abnormal carotid artery morphology Anemic pallor Rhizomelia Micromelia Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Osteoarthritis Tetraparesis Epidermal acanthosis Overgrowth Otitis media Oral cleft Confusion Joint hyperflexibility Deficient excision of UV-induced pyrimidine dimers in DNA Scarring Conductive hearing impairment Rigidity Arthralgia Midface retrusion Malar flattening Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Acromicria



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