Lymphoma, and Autism

Diseases related with Lymphoma and Autism

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

Top matches:

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

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 CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

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

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

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Atrial septal defect
  • Autism


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Top 5 symptoms//phenotypes associated to Lymphoma and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Atrial septal defect Micrognathia Cryptorchidism Growth delay Hearing impairment Strabismus Muscular hypotonia Behavioral abnormality Frontal bossing Autistic behavior Ptosis Ventricular septal defect Abnormality of the kidney Depressed nasal bridge Epicanthus High palate Myopia Abnormality of the dentition Feeding difficulties Cafe-au-lait spot Abnormal heart morphology Abnormal facial shape Incoordination Respiratory tract infection Hyperkeratosis Prominent forehead Low-set ears Ichthyosis Sleep apnea Overweight Cataract Aganglionic megacolon Thick lower lip vermilion Meningioma Macrocephaly Multiple cafe-au-lait spots Coarctation of aorta Genu valgum Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Tetralogy of Fallot Osteopenia Abnormality of the cardiovascular system Hyperactivity Acute leukemia Osteoporosis Dilatation Intellectual disability, mild Hydrocephalus Hypertension Neurofibromas Cognitive impairment Pain Narrow forehead Clinodactyly of the 5th finger Specific learning disability Kyphosis Abnormality of the pinna Gastroesophageal reflux Upslanted palpebral fissure Constipation Intellectual disability, moderate Intellectual disability, severe Palmoplantar hyperkeratosis Narrow mouth Pectus excavatum Thick vermilion border Joint hypermobility Sleep disturbance Downslanted palpebral fissures Full cheeks Ataxia Motor delay Wide nasal bridge Short nose

Rare Symptoms - Less than 30% cases

Hypoplasia of the maxilla Dysphagia Dental malocclusion Palmoplantar keratoderma Broad thumb Corneal opacity Nystagmus Hypogonadism Precocious puberty Polymicrogyria Breast carcinoma Exotropia Overgrowth Webbed neck Syndactyly Thin upper lip vermilion Melanocytic nevus Short foot Mitral valve prolapse Short palm Large hands Abnormality of the nervous system Low posterior hairline Melanoma Stereotypy Hemangioma Growth hormone deficiency Gastrointestinal hemorrhage Coloboma Edema Ventriculomegaly Cerebral cortical atrophy Delayed puberty Hydronephrosis EEG abnormality Bifid uvula Polyhydramnios Proptosis Immunodeficiency Depressed nasal ridge Neoplasm of the central nervous system Mitral regurgitation Abnormality of skin pigmentation Delayed skeletal maturation Truncal obesity Cerebral atrophy Congestive heart failure Myopathy Feeding difficulties in infancy Vomiting Renal cell carcinoma Pheochromocytoma Brachydactyly Bicuspid aortic valve Cleft palate Hypotrichosis Astrocytoma Hypermetropia Intrauterine growth retardation Dolichocephaly Erythema Patent ductus arteriosus Arrhythmia Retrognathia Rhabdomyosarcoma Nasolacrimal duct obstruction Frontal upsweep of hair Sparse hair Recurrent fractures Peripheral axonal neuropathy Cavernous hemangioma Hodgkin lymphoma Large for gestational age Pes planus Hypopigmented skin patches Coarse facial features Short attention span Micropenis Dysphasia Clinodactyly Widely spaced teeth Acrocyanosis Esophagitis Failure to thrive in infancy Brittle hair Astigmatism Encephalopathy Thickened helices Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Short neck Convex nasal ridge Small hand Tapered finger Single transverse palmar crease Hypopigmentation of the skin Abdominal distention Prominent nose Neurological speech impairment Open mouth Deeply set eye Short philtrum Wide mouth Abnormality of refraction Postnatal growth retardation Fine hair Apnea Aggressive behavior Poor suck Thick eyebrow Anteverted nares Narrow palate Talipes equinovarus Microcephaly Anemia Cardiomyopathy Blindness Headache Abnormality of cardiovascular system morphology Fatigue Abnormality of the skeletal system Depressivity Dysarthria Glaucoma Hypertrophic cardiomyopathy Hypoglycemia Weight loss Transposition of the great arteries Keratitis Abnormal hair pattern Abnormality of dental morphology Abnormality of the optic nerve Decreased fertility Thick upper lip vermilion Increased number of teeth Hypoplastic nipples Erythroderma Overfolded helix Acute lymphoblastic leukemia Dystrophic fingernails Abnormality of the outer ear Growth abnormality Abnormality of the ulna Hip dislocation Hypodontia Ectodermal dysplasia Hypoplasia of the zygomatic bone Premature skin wrinkling Microdontia Broad-based gait Tall stature Abnormality of epiphysis morphology Joint contracture of the hand Conductive hearing impairment Recurrent skin infections Skin ulcer Osteolysis Brachycephaly Persistence of hemoglobin F Fetal distress Abnormality of the gastrointestinal tract Reticulocytopenia Abnormal dermatoglyphics Woolly hair Cleft soft palate Increased mean corpuscular volume Camptodactyly Long foot Tracheomalacia Unilateral renal agenesis Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Testicular seminoma Abnormality of the stomach Functional abnormality of the gastrointestinal tract Abdominal wall defect Abnormality of the abdominal wall Tongue thrusting Hyperkeratosis pilaris Lissencephaly Abnormality of the optic disc Hypohidrosis Abnormality of the hairline Abnormal location of ears Renal insufficiency Oral aversion Puberty and gonadal disorders Multiple plantar creases Eyelid fasciculation Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Abnormal tricuspid valve morphology Anterior creases of earlobe Macrocytic anemia Subvalvular aortic stenosis Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Triphalangeal thumb Abnormality of the hand Deep palmar crease Short thumb Abnormality of the genital system Gastrointestinal dysmotility Abnormal mitral valve morphology Ventricular hypertrophy Slow-growing hair Abnormal aortic valve morphology Frontal balding Migraine Hyperextensibility of the finger joints Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Neutropenia Cleft upper lip Multiple lentigines Pallor Sparse or absent eyelashes Increased nuchal translucency Cleft lip Endocarditis Abnormality of the urinary system Glucose intolerance Retinal coloboma Impulsivity Long eyelashes Dental crowding Wide anterior fontanel Low anterior hairline Spina bifida occulta Recurrent upper respiratory tract infections Laryngomalacia Broad hallux Otitis media Delayed cranial suture closure Congenital glaucoma Dislocated radial head Neuroblastoma Shawl scrotum Poor coordination Patellar dislocation Hypoplasia of dental enamel Highly arched eyebrow Obstructive sleep apnea Flexion contracture Hypoplastic labia minora Psychotic episodes Narrow palm Hypopnea Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Hyperreflexia Iris coloboma Respiratory distress Hypospadias Agenesis of corpus callosum Polydactyly Joint laxity Unsteady gait Hirsutism Self-mutilation Capillary hemangioma Temperature instability Enlarged tonsils Bifid uterus Agoraphobia Large foramen magnum Narrow maxilla Premature thelarche Deviated nasal septum Talon cusp Papillary cystadenoma of the epididymis Duplication of phalanx of hallux High axial triradius Abnormal number of teeth Radial deviation of thumb terminal phalanx Plantar crease between first and second toes Schizophrenia Hemiplegia Preeclampsia Vascular ring Dyscalculia Low hanging columella Phonophobia Hypoplastic iliac wing Dyslexia Flared iliac wings Avascular necrosis of the capital femoral epiphysis Medulloblastoma Abnormal cornea morphology Broad distal phalanx of finger Tethered cord Chorioretinal dystrophy Facial grimacing Abnormality of the cervical spine Parietal foramina Short upper lip Bimanual synkinesia Prominent fingertip pads Duane anomaly Keloids Central adrenal insufficiency Triangular mouth Peripheral pulmonary artery stenosis Oligohydramnios Arachnodactyly Downturned corners of mouth Sepsis Esotropia Febrile seizures Hip dysplasia Amenorrhea Decreased fetal movement Carious teeth Type II diabetes mellitus Psychosis Cutaneous photosensitivity Primary amenorrhea Clumsiness Insulin resistance Bradycardia Infertility Stroke Increased body weight Violent behavior Aplasia/Hypoplasia of the nipples Ureteropelvic junction obstruction Aplastic clavicle Duplicated collecting system Clubbing of toes Aplasia/Hypoplasia of the phalanges of the hand Pulmonary valve atresia Aplasia/Hypoplasia of the phalanges of the toes Neonatal hypotonia Low-set nipples Fever Obesity Hyporeflexia Recurrent respiratory infections Diabetes mellitus Respiratory failure Photophobia Aortic valve stenosis Hypogonadotrophic hypogonadism Disseminated intravascular coagulation Ocular albinism Hypoventilation Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Oligomenorrhea Hypoplasia of the fovea Chromosome breakage Hypothermia Pulmonary embolism Generalized hypopigmentation Cor pulmonale Abdominal obesity Poor fine motor coordination Anteverted ears Clitoral hypoplasia Erysipelas Hypopigmentation of hair Striae distensae Spontaneous abortion Inflammation of the large intestine Narrow palpebral fissure Scrotal hypoplasia Infantile muscular hypotonia Nasal speech Hyperinsulinemia Radial deviation of finger Emotional lability Enlarged kidney Impaired pain sensation Albinism Skeletal muscle hypertrophy Adrenal insufficiency Decreased muscle mass External genital hypoplasia Polyphagia Narrow nasal bridge Myeloid leukemia Absent eyelashes Umbilical hernia Arnold-Chiari type I malformation Renovascular hypertension Dural ectasia Epigastric pain Soft tissue sarcoma Pseudoarthrosis Single ventricle Renal artery stenosis Axillary freckling Fibular bowing Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Leiomyosarcoma Gastrointestinal stroma tumor Plexiform neurofibroma Anomalous pulmonary venous return Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Aqueductal stenosis Parathyroid adenoma Complete atrioventricular canal defect Night sweats Lisch nodules Paraganglioma Carcinoid tumor Glioma Schwannoma Renal phosphate wasting Chronic myelogenous leukemia Acute promyelocytic leukemia Inguinal freckling Increased reactive oxygen species production Drooling Telangiectasia Chronic diarrhea Gynecomastia Lymphopenia Neoplasm of the skin Cranial nerve paralysis Increased intracranial pressure Intention tremor Goiter Dysdiadochokinesis Intracranial hemorrhage Hand polydactyly Cutis marmorata Macule Subcutaneous nodule Decreased antibody level in blood Spinal neurofibromas Tremor Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Brow ptosis Muscle weakness Skeletal muscle atrophy Diarrhea Macroglossia Recurrent infections Hypothyroidism Proximal muscle weakness Carcinoma Papule Nausea and vomiting Abnormal cerebellum morphology Gangrene Severe vision loss Multiple lipomas Supernumerary nipple Coarse hair Short metatarsal Self-injurious behavior Clubbing Cupped ear Overlapping toe Aphasia Intellectual disability, progressive Hyperventilation Hiatus hernia Misalignment of teeth Echolalia Clubbing of fingers Abnormality of the helix Mutism Finger clinodactyly Abnormal pattern of respiration Anxiety Hypoplasia of the corpus callosum Absent speech Pneumonia Pes cavus Gait ataxia Mandibular prognathia Protruding ear Abnormal autonomic nervous system physiology Prominent nasal bridge Severe global developmental delay Wide intermamillary distance Cyanosis Postnatal microcephaly Truncal ataxia Breathing dysregulation Pes valgus Osteomalacia Sarcoma Bone pain Sensorimotor neuropathy Spina bifida Atherosclerosis Venous thrombosis Reduced bone mineral density Back pain Paresthesia Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Pulmonary fibrosis Tibial bowing Freckling Hypsarrhythmia Facial asymmetry Happy demeanor Broad fingertip Large beaked nose Square face Small cerebral cortex Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Triangular nasal tip Malabsorption Overhanging nasal tip Visual impairment Peripheral neuropathy Respiratory insufficiency Visual loss Kyphoscoliosis Paralysis Abnormality of the thyroid gland Cystic hygroma Abnormal eyelash morphology Thickened skin Progressive visual loss Cardiomegaly Myocardial infarction Hemiparesis Inflammatory abnormality of the skin Decreased body weight Lymphedema Intestinal malrotation Hyperpigmentation of the skin Cerebral visual impairment Aspiration Abnormality of the nail Sparse eyelashes Oculomotor apraxia Premature birth Vesicoureteral reflux Abnormality of the genitourinary system Long face Scarring Abnormal cardiac septum morphology Pectus carinatum Nail dystrophy Abnormality of the cerebral white matter Dry skin Falls Nevus Bulbous nose Bruising susceptibility Retinal dystrophy Hepatic steatosis High, narrow palate Abnormal bleeding Cutis laxa Delayed gross motor development Abnormality of the eye Curly hair Neurodevelopmental delay Infantile spasms Abnormality of the sternum Long palpebral fissure Abnormal heart valve morphology Biparietal narrowing Generalized hyperpigmentation Hydroureter Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Alopecia of scalp Aplasia/Hypoplasia of the eyebrow Malnutrition Optic nerve hypoplasia Sparse eyebrow Abnormality of vision Relative macrocephaly Hyperextensible skin Deep philtrum Redundant skin Bilateral ptosis Scaling skin Open bite Pleural effusion Ectropion Cubitus valgus Chronic otitis media Heart murmur Obsessive-compulsive behavior Absent eyebrow Irritability Low-set, posteriorly rotated ears Cellulitis Fibroma Bone cyst Cellular immunodeficiency Long penis Enlarged polycystic ovaries Papilloma Hamartomatous polyposis Generalized hyperkeratosis Ovarian cyst Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Intestinal polyposis Abnormality of the uterus Intestinal polyp Scaphocephaly Acute myeloid leukemia Hamartoma Hyperthyroidism Ovarian neoplasm Thyroiditis Hashimoto thyroiditis Lipoma Furrowed tongue Abnormality of the vasculature Papilledema Prolactin excess Skin tags Megalencephaly Hydrocele testis Arteriovenous malformation Ovarian carcinoma Thyroid adenoma Telecanthus Thrombocytopenia Hepatomegaly Optic atrophy Hypertonia Splenomegaly Long philtrum Malar flattening Hernia Multiple trichilemmomata Inguinal hernia Alopecia Posteriorly rotated ears Hyperhidrosis High forehead Macrotia Lobular carcinoma in situ Merkel cell skin cancer Varicocele Acrokeratosis Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Transitional cell carcinoma of the bladder Ductal carcinoma in situ Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Intraventricular hemorrhage


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