Immunodeficiency, and Pectus excavatum

Diseases related with Immunodeficiency and Pectus excavatum

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

Top matches:

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium 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

Other less relevant matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

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

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Pectus excavatum

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Pectus excavatum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Hydrocephalus Failure to thrive Depressed nasal bridge Abnormal facial shape Muscular hypotonia Cataract Growth delay Leukemia Microcephaly Cryptorchidism Hypospadias Intellectual disability, mild Frontal bossing Behavioral abnormality Ventriculomegaly Dental malocclusion Micrognathia Neoplasm Decreased antibody level in blood Epicanthus Nystagmus Downslanted palpebral fissures Strabismus Thrombocytopenia Atrial septal defect Delayed skeletal maturation Abnormal heart morphology Optic atrophy Talipes equinovarus Syndactyly Myopathy Abnormality of the dentition Inguinal hernia Clinodactyly Hernia Abnormality of the skeletal system Flexion contracture Pancytopenia Ptosis Ataxia Intellectual disability, moderate Long philtrum High palate Delayed speech and language development Short neck Macrocephaly Spasticity Sensorineural hearing impairment Midface retrusion Agenesis of corpus callosum Patent ductus arteriosus Prominent forehead Respiratory tract infection Kyphosis Motor delay Highly arched eyebrow Otitis media Skeletal dysplasia Small for gestational age Hyperreflexia Exotropia Postnatal growth retardation Anal atresia Single transverse palmar crease Feeding difficulties in infancy Muscle weakness Thin upper lip vermilion Osteopenia Brachydactyly

Rare Symptoms - Less than 30% cases

Neurological speech impairment Finger syndactyly Anteverted nares Multiple lipomas Widely spaced teeth Malar flattening Short nose Cleft palate Microphthalmia Abnormality of the sternum Cerebral atrophy High forehead Hydrocele testis Meningioma Abnormal cardiac septum morphology Acute myeloid leukemia Camptodactyly Hydronephrosis Recurrent respiratory infections Clinodactyly of the 5th finger Ambiguous genitalia Intrauterine growth retardation Constipation Low anterior hairline Dental crowding Coarctation of aorta Iris coloboma Renal agenesis Thick eyebrow Pulmonic stenosis Coloboma Abnormality of the pinna Patellar dislocation Pes planus Retrognathia Corneal opacity Polydactyly Respiratory distress Cerebellar hypoplasia Ventricular septal defect Diarrhea Abnormal cornea morphology Nasolacrimal duct obstruction Rhabdomyosarcoma Mild microcephaly Narrow chest Oligohydramnios Cerebellar atrophy Dandy-Walker malformation Wide nose Micropenis Upslanted palpebral fissure Posteriorly rotated ears Hand polydactyly Narrow palate Smooth philtrum Myopia Craniosynostosis Abnormality of the kidney Retinal dysplasia Recurrent bacterial infections Hypothyroidism Narrow mouth Pectus carinatum Bone marrow hypocellularity Neutropenia Sepsis Abnormality of the anus Skeletal muscle atrophy Cognitive impairment Joint hypermobility Prominent nose Chronic diarrhea Pain Progressive microcephaly Lymphopenia Combined immunodeficiency Neurodevelopmental delay Hepatomegaly Gait disturbance Dislocated radial head Flat occiput Heart murmur Myelodysplasia Autism Amblyopia Kyphoscoliosis Increased intracranial pressure Webbed neck Cafe-au-lait spot Microdontia Broad thumb Recurrent aphthous stomatitis Coarse facial features Hypoplasia of the maxilla Eczema Macroglossia Atresia of the external auditory canal Bilateral camptodactyly Blindness Congenital thrombocytopenia Megakaryocyte dysplasia Hypodysplasia of the corpus callosum Abnormality of the curvature of the vertebral column Abnormality of the head Premature chromatid separation Absent eyebrow Anemia Clitoral hypertrophy Cupped ear Cleft lip Anophthalmia Embryonal rhabdomyosarcoma Conductive hearing impairment Long hallux Abnormality of the urinary system Underdeveloped nasal alae Macular hypoplasia Wide intermamillary distance Central hypothyroidism Giant platelets Toe clinodactyly U-Shaped upper lip vermilion Renal hypoplasia Encephalocele Postaxial polydactyly Renal hypoplasia/aplasia Urethral stenosis Cutaneous syndactyly Annular pancreas Internal hemorrhage Clitoral hypoplasia Pulmonary hypoplasia Cleft upper lip Arteria lusoria Elevated hepatic transaminase Bifid scrotum Cerebral hypoplasia Metaphyseal dysostosis Nephrocalcinosis Coxa vara Leukopenia Metaphyseal widening Neonatal respiratory distress Short thorax Irregular ossification at anterior rib ends Narrow sacroiliac notch Steatorrhea Myeloid leukemia Cutaneous finger syndactyly Exocrine pancreatic insufficiency Short ribs Myocardial necrosis Proximal femoral metaphyseal irregularity Ovoid vertebral bodies Aplastic anemia Recurrent viral infections Enlargement of the costochondral junction Acute monocytic leukemia Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal chondrodysplasia Metaphyseal sclerosis Type I diabetes mellitus Decreased liver function Malabsorption Limb-girdle muscular dystrophy Carious teeth Ichthyosis Triangular mouth Short sternum Generalized muscle weakness Acute leukemia Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Anterior rib cupping Nephroblastoma Sarcoma Brachycephaly Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Specific learning disability Apraxia Amenorrhea Abnormality of the metaphysis Generalized myoclonic seizures Renal cyst Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Proximal femoral epiphysiolysis Long ear Aplasia/Hypoplasia of the thumb Optic disc pallor Neurodegeneration Progressive cerebellar ataxia Gliosis Delayed myelination Hip dysplasia Peripheral demyelination Type II diabetes mellitus Confusion Psychosis Depressed nasal ridge Hypertrichosis Progressive neurologic deterioration Bowing of the long bones Tall stature Antineutrophil antibody positivity Retinal degeneration Dysmetria Limb ataxia Umbilical hernia Splenomegaly Depressivity Areflexia Babinski sign Gait ataxia Mandibular prognathia Macrotia Hepatosplenomegaly Genu valgum Arthritis Anxiety Mental deterioration Broad forehead Abnormality of the cerebral white matter Hypermetropia Abnormality of the foot Gingival overgrowth Hallucinations Dysarthria Synovitis Dysostosis multiplex Reduced ejection fraction Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Spondylolysis Abnormality of the rib cage Abnormal echocardiogram Delusions Thoracolumbar kyphosis Vacuolated lymphocytes Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Cranial hyperostosis Impaired smooth pursuit Severe sensorineural hearing impairment Spastic gait Increased vertebral height Abnormality of joint mobility Prominent supraorbital ridges Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Chronic otitis media Aseptic necrosis Bowing of the legs Open bite Bowel incontinence Femoral bowing Thickened calvaria Bronchitis Limb dystonia Intellectual disability, severe Eversion of lateral third of lower eyelids Gonadal dysgenesis Abnormality of dental structure Abnormality of the nares Urethral atresia Difficulty in tongue movements Synovial hypertrophy Abnormal thrombocyte morphology Progressive joint destruction Cleft ala nasi Abnormality of the thymus Cryptophthalmos Laryngeal web Aplasia/Hypoplasia of the phalanges of the hand Morphological abnormality of the middle ear Hypoplastic superior helix Lacrimal duct aplasia Midline nasal groove Abnormality of the gingiva Upper eyelid coloboma Severe T-cell immunodeficiency Flattened moderately deformed vertebrae Facial cleft Anal stenosis Foot polydactyly Absent eyelashes Postaxial foot polydactyly Myelomeningocele Choanal stenosis Calvarial skull defect Laryngeal stenosis Abnormal cortical gyration Bicornuate uterus Vaginal atresia Gonadoblastoma Bilateral microphthalmos Subglottic stenosis Bilateral renal agenesis Wide pubic symphysis Abnormality of the small intestine Flared nostrils Pericardial effusion Abnormal intestine morphology Tented upper lip vermilion Hypoalbuminemia Sparse eyebrow Proximal placement of thumb Unilateral renal agenesis Overlapping toe Abnormality of the periventricular white matter Bilateral sensorineural hearing impairment Congenital nystagmus Protein-losing enteropathy Anomalous pulmonary venous return Total anomalous pulmonary venous return Increased mean platelet volume Macrothrombocytopenia Intestinal lymphangiectasia Lymphedema Narrow forehead Laryngeal atresia Reduced visual acuity Extension of hair growth on temples to lateral eyebrow Malformed lacrimal duct Aplasia/Hypoplasia of the sternum Abnormality of the umbilicus Hypoplasia of the corpus callosum Absent speech Cerebral cortical atrophy Wide mouth Nevus Short philtrum Synophrys Bulbous nose Downturned corners of mouth Retinal detachment Tapered finger Ascites Broad columella Hypoglycemia Labial hypoplasia Abnormality of the vasculature Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Megalencephaly Skin tags Prolactin excess Papilledema Lipoma Papilloma Multiple cafe-au-lait spots Melanocytic nevus Cutis marmorata Macule Abnormality of the thyroid gland Cystic hygroma Cellulitis Hamartoma Scaphocephaly Hyperthyroidism Ovarian neoplasm Thyroiditis Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Enlarged polycystic ovaries Hamartomatous polyposis Dysdiadochokinesis Pseudopapilledema Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Progressive macrocephaly Fibroma Abnormality of the penis Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Angioid streaks of the fundus Colorectal polyposis Ovarian carcinoma Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Intracranial hemorrhage Incoordination Dysphagia Stomatitis Epiphyseal dysplasia Eosinophilia Coxa valga Inflammatory abnormality of the skin Generalized-onset seizure Limb undergrowth Full cheeks Broad nasal tip Platyspondyly Muscular hypotonia of the trunk Abnormality of the nervous system Protracted diarrhea Pyelonephritis Hypoplasia of the thymus Heat intolerance Opisthotonus Ectodermal dysplasia Fever Encephalopathy Pneumonia Difficulty walking Dry skin Lymphadenopathy Hypocalcemia Progressive encephalopathy Respiratory insufficiency due to muscle weakness Encephalitis Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Erythroderma Disproportionate short stature Palmoplantar hyperkeratosis Abnormal cerebellum morphology Goiter Breast carcinoma Melanoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Gynecomastia Telangiectasia Subcutaneous nodule Intention tremor Overgrowth Lymphoma Palmoplantar keratoderma Metaphyseal dysplasia Severe platyspondyly Severe combined immunodeficiency Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Cervical instability Tremor Polymicrogyria Headache Dilatation Proximal muscle weakness Carcinoma Papule Nausea and vomiting Hypertension Arrhythmia Aplasia/Hypoplasia of the earlobes Talipes Leukodystrophy Short toe Sinusitis Short thumb Pachygyria Abnormal form of the vertebral bodies Dehydration Growth hormone deficiency Intestinal malrotation Premature birth Postural instability Microcornea Bruising susceptibility Tachycardia Facial asymmetry Spina bifida Osteoporosis Abnormal number of teeth Radial deviation of thumb terminal phalanx Plantar crease between first and second toes Feeding difficulties Congestive heart failure Abnormality of cardiovascular system morphology Hypogonadism Toe syndactyly Telecanthus Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Skin rash Hip dislocation Dolichocephaly Aortic valve stenosis Horseshoe kidney Papillary cystadenoma of the epididymis Natal tooth Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Slender finger Multicystic kidney dysplasia Pyloric stenosis Holoprosencephaly Azoospermia Abnormal palate morphology Tachypnea Infantile muscular hypotonia Schizophrenia Trigonocephaly Partial agenesis of the corpus callosum Ectropion Chorioretinal coloboma Hammertoe Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Atrioventricular canal defect High axial triradius Enlarged tonsils Hyperactivity Stereotypy Overweight Shawl scrotum Neuroblastoma Neurofibromas Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Wide anterior fontanel Long eyelashes Self-mutilation Joint laxity Glaucoma Proptosis Polyhydramnios Gastroesophageal reflux EEG abnormality Deeply set eye Unsteady gait Hypoplasia of dental enamel Hirsutism Recurrent fractures Convex nasal ridge Low posterior hairline Mitral regurgitation Aganglionic megacolon Poor coordination Obstructive sleep apnea Talon cusp Bimanual synkinesia Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Short upper lip Capillary hemangioma Avascular necrosis of the capital femoral epiphysis Low hanging columella Hypoplastic iliac wing Short attention span Dyslexia Flared iliac wings Abnormality of refraction Pheochromocytoma Parietal foramina Medulloblastoma Broad distal phalanx of finger Phonophobia Tethered cord Facial grimacing Abnormality of the cervical spine Spinocerebellar tract disease in lower limbs


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