Micrognathia, and Myeloid leukemia

Diseases related with Micrognathia and Myeloid leukemia

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

Top matches:

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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

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

Other less relevant matches:

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

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

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 WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match LIG4 SYNDROME

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).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

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

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

Top 5 symptoms//phenotypes associated to Micrognathia and Myeloid leukemia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm

Common Symptoms - More than 50% cases

Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Myelodysplasia Cleft palate Nystagmus High palate Epicanthus Strabismus Hypertelorism Upslanted palpebral fissure Postnatal growth retardation Global developmental delay Anemia Failure to thrive Thrombocytopenia Seizures Clinodactyly Ventricular septal defect Atrial septal defect Congestive heart failure Short nose Hypospadias Chromosome breakage Acute leukemia Acute myeloid leukemia Pancytopenia Cataract Clinodactyly of the 5th finger Abnormal facial shape Scoliosis Abnormality of chromosome stability Facial asymmetry Ventriculomegaly Triphalangeal thumb Fatigue Low-set ears Downslanted palpebral fissures Short neck Edema Vomiting Abnormality of the skeletal system Abnormal heart morphology Short thumb Retrognathia Abnormal cardiac septum morphology Neutropenia Posteriorly rotated ears Small for gestational age Reticulocytopenia Abnormality of the genital system Hypertrophic cardiomyopathy Type II diabetes mellitus Fever Oligohydramnios Lymphoma Patent ductus arteriosus Hypogonadism Diabetes mellitus Telangiectasia Severe short stature Amenorrhea Immunodeficiency Intellectual disability, mild Primary amenorrhea Cardiomyopathy Cutaneous photosensitivity Dolichocephaly Ptosis Azoospermia Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Bicuspid aortic valve Hearing abnormality Failure to thrive in infancy Bruising susceptibility Poor suck Kyphosis Severe intrauterine growth retardation Nephroblastoma Aplasia/Hypoplasia of the iris Ventricular hypertrophy Triangular face Acute monocytic leukemia Hyperactivity Clumsiness Delayed speech and language development Acute lymphoblastic leukemia Almond-shaped palpebral fissure Hypoplastic anemia Persistence of hemoglobin F Pain Partial duplication of thumb phalanx Obesity Wide nasal bridge Brachycephaly Ambiguous genitalia Pes planus Abnormality of cardiovascular system morphology Dental malocclusion Pulmonic stenosis Hepatomegaly Abnormality of blood and blood-forming tissues Myopia Hydrocephalus Hip dislocation Sloping forehead Renal insufficiency Headache Dilatation Microphthalmia Tapered finger Hypothyroidism Abnormality of the uterus Tetralogy of Fallot Feeding difficulties Proptosis Leukocytosis Cognitive impairment Visual impairment Abnormality of the pinna Radial deviation of finger Generalized hypotonia Patent foramen ovale Absent thumb Increased mean corpuscular volume Infertility Recurrent respiratory infections Cleft upper lip Abnormality of the nervous system Pallor Telangiectasia of the skin Glaucoma Erythema Glucose intolerance Finger syndactyly Insulin resistance Webbed neck Delayed puberty Prominent nose Specific learning disability Cafe-au-lait spot Aplastic anemia Narrow face Hypopigmented skin patches Hypopigmentation of the skin Squamous cell carcinoma Hyperinsulinemia Cleft lip Coarctation of aorta Weight loss 11 pairs of ribs Abnormality of the dentition Malar flattening Syndactyly Osteoporosis Recurrent infections Macrocytic anemia Depressed nasal ridge Micropenis Delayed skeletal maturation Abnormality of the urinary system Triangular mouth Autism Abnormality of the hand Bone marrow hypocellularity Combined immunodeficiency Type I diabetes mellitus Leukopenia Emotional lability Polyphagia Precocious puberty Narrow nasal bridge Large hands Impaired pain sensation Cranial nerve paralysis Striae distensae Pulmonary embolism External genital hypoplasia Adrenal insufficiency Truncal obesity Decreased muscle mass Horseshoe kidney Aganglionic megacolon Skeletal muscle hypertrophy Albinism Recurrent urinary tract infections Inflammation of the large intestine Abnormal vertebral morphology Reduced bone mineral density Spina bifida Hypergonadotropic hypogonadism Renal hypoplasia/aplasia Choanal atresia Abnormality of the liver Short palpebral fissure Erysipelas Hyperreflexia Generalized hypopigmentation Cor pulmonale Abdominal obesity Poor fine motor coordination Ataxia Anteverted ears Clitoral hypoplasia Frontal upsweep of hair Hearing impairment Respiratory distress Disseminated intravascular coagulation Acromicria Poor gross motor coordination Temperature instability Hypopnea Narrow palm Psychotic episodes Central adrenal insufficiency Hypoplastic labia minora Frontal bossing Hypothermia Renal agenesis Abnormality of the kidney Abnormality of skin pigmentation Vertigo Astigmatism Anal atresia Abnormality of the foot Hypopigmentation of hair Toe syndactyly Hypoventilation Irritability Iris hypopigmentation Ocular albinism Abnormality of the eye Abnormality of lipid metabolism Carcinoma Umbilical hernia Central hypotonia Overweight Oligomenorrhea Acrocyanosis Hypoplasia of the fovea Abnormality of vision Neoplasm of head and neck Tracheoesophageal fistula Large beaked nose Esophagitis Tracheomalacia Melanoma Mitral regurgitation Thick lower lip vermilion Mitral valve prolapse Migraine Bifid uvula Autistic behavior Arrhythmia Bird-like facies Fetal distress Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Psoriasiform dermatitis Low anterior hairline Hypoplasia of penis Thin vermilion border Lymphadenopathy Malabsorption Telecanthus Dysfunction of lateral corticospinal tracts Cleft soft palate Anteverted nares Streak ovary Intellectual disability, profound Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Bifid scrotum Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Dandy-Walker malformation Long philtrum Generalized myoclonic seizures Renal cyst Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy High forehead Agenesis of corpus callosum Cerebellar hypoplasia Midface retrusion Displacement of the external urethral meatus Abnormal vagina morphology Hypoplasia of the ulna Abnormality of the testis 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 upper limb Duplicated collecting system B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Multiple cafe-au-lait spots Hydroureter Ectopic kidney Duodenal stenosis Meckel diverticulum Peters anomaly Aplasia/Hypoplasia of fingers Gonadoblastoma Hemihypertrophy Renal neoplasm Aniridia Abnormality of the genitourinary system Microcornea Everted lower lip vermilion Nephropathy Corneal opacity Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of the uvula Low-grade fever Infantile muscular hypotonia Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Nasal speech Amegakaryocytic thrombocytopenia Scrotal hypoplasia Hypoplasia of the corpus callosum Convex nasal ridge Single transverse palmar crease Thick eyebrow Talipes Synophrys Microtia Blepharophimosis Hyperlordosis Intellectual disability, moderate Pes cavus Hypoplastic sacral vertebrae Pachygyria Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Cerebellar vermis hypoplasia Hypoplasia of dental enamel Osteosarcoma Small anterior fontanelle Pectus excavatum Hernia Splenomegaly Brachydactyly Sensorineural hearing impairment Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Lumbar scoliosis Dental crowding Selective tooth agenesis Abnormal cortical gyration Abnormally large globe Cone-shaped epiphyses of the phalanges of the hand Proportionate short stature Dislocated radial head Clitoral hypertrophy Sandal gap Narrow palate Elbow flexion contracture Anemia of inadequate production Hypoplastic ilia Rod-cone dystrophy Abnormality of the face IgG deficiency Hodgkin lymphoma IgA deficiency Pulmonary fibrosis High pitched voice Hand polydactyly Reduced number of teeth Sacral dimple Sinusitis Bronchiectasis Hypertrichosis Hypoplastic pelvis Otitis media Abnormality of the skin Decreased antibody level in blood Ichthyosis Skin rash Protruding ear Polydactyly Hyperhidrosis Pneumonia Diarrhea Hypoplasia of the zygomatic bone Chronic lung disease Thrombocytosis Narrow chest Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Hypoplasia of the radius Abnormal dermatoglyphics Hydrops fetalis Premature birth Nausea Nausea and vomiting Lethargy Chronic obstructive pulmonary disease Flexion contracture Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Constipation Abdominal pain Sleep apnea Osteopenia Hypermetropia Pruritus Stroke Attention deficit hyperactivity disorder Respiratory tract infection Apnea Neonatal hypotonia Hypoglycemia Photophobia Thin upper lip vermilion Narrow mouth Genu valgum Respiratory failure Prominent forehead Hyporeflexia Behavioral abnormality Myopathy Intellectual disability, severe Talipes equinovarus Hypertension Motor delay Muscular hypotonia Carious teeth Arachnodactyly Preductal coarctation of the aorta Hip dysplasia Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Psychosis Decreased fetal movement Narrow forehead Abnormality of the cardiovascular system Febrile seizures Polymicrogyria Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Sleep disturbance Short foot Small hand Downturned corners of mouth Short palm Postductal coarctation of the aorta Nasogastric tube feeding Polyhydramnios Left ventricular hypertrophy Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Cubitus valgus Elevated alkaline phosphatase Pterygium Arnold-Chiari malformation Plagiocephaly Lymphedema Amblyopia Low posterior hairline Male infertility Wide intermamillary distance Abnormal bleeding Abdominal distention High, narrow palate Hypotrichosis Broad forehead Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Gastroesophageal reflux Cystic hygroma Abnormality of the vertebral column Reduced factor XIII activity Optic disc hypoplasia Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Neuroblastoma Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Hypodysplasia of the corpus callosum


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