Lymphoma, and Bulbous nose

Diseases related with Lymphoma and Bulbous nose

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

Top matches:

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Other less relevant matches:

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Low match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

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

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Bulbous nose

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Cataract Anteverted nares Atrial septal defect Leukemia Long philtrum Wide nasal bridge Thick vermilion border Motor delay Hypertonia Blindness Dry skin Astigmatism Glaucoma Intellectual disability, severe Edema Full cheeks Ventriculomegaly Thin upper lip vermilion Cryptorchidism Multiple cafe-au-lait spots Short neck Upslanted palpebral fissure Failure to thrive Micrognathia Wide nose Strabismus Microphthalmia Ptosis Low-set ears Feeding difficulties High palate Short nose Ventricular septal defect Nystagmus Downslanted palpebral fissures Malar flattening Optic atrophy Abnormal heart morphology Hypertelorism Ataxia Coarse facial features Delayed skeletal maturation Postnatal growth retardation Aggressive behavior Retinal detachment Micropenis Pointed chin Specific learning disability Protruding ear Mandibular prognathia Severe short stature Hypoplasia of the corpus callosum Sensorineural hearing impairment Finger clinodactyly Sloping forehead Deeply set eye Clinodactyly Abnormality of the skeletal system Acute lymphoblastic leukemia Visual loss Abnormality of the eye Cafe-au-lait spot Retinal dystrophy Sleep disturbance Vesicoureteral reflux Subvalvular aortic stenosis Growth hormone deficiency Thickened skin Lymphedema Abnormal eyelash morphology Aplasia/Hypoplasia of the corpus callosum Sleep apnea Abnormality of vision Bilateral ptosis Scaling skin Underdeveloped supraorbital ridges Webbed neck Retrognathia Fine hair Coarse hair Cognitive impairment Intrauterine growth retardation Scoliosis Corneal opacity Abnormality of skin pigmentation

Rare Symptoms - Less than 30% cases

Cleft palate Small hand Smooth philtrum Hydroureter Anxiety Abnormality of the sternum Long palpebral fissure Abnormality of the optic nerve Increased nuchal translucency Slow-growing hair Thickened helices Highly arched eyebrow Depressed nasal tip Sparse scalp hair Midface retrusion Abnormality of the kidney Patent ductus arteriosus Osteopenia Thick eyebrow Everted lower lip vermilion Scarring Ectropion Narrow forehead Dolichocephaly Postnatal microcephaly Hypermetropia Premature birth Long face Wide mouth Abnormality of the pinna Abdominal distention Nevus Progressive visual loss Coarctation of aorta Pleural effusion Low posterior hairline Open mouth Decreased body weight Sparse eyelashes Abnormal palate morphology Optic nerve hypoplasia Deep philtrum Redundant skin Wide intermamillary distance Cleft upper lip Oral cleft Pachygyria Hypothyroidism Short palpebral fissure Apnea Blepharophimosis Small for gestational age Muscle stiffness Skin ulcer Abnormality of retinal pigmentation Triangular face Amblyopia Kyphosis Subcutaneous nodule Thick lower lip vermilion Patent foramen ovale Status epilepticus Abnormality of the dentition Broad nasal tip Retinopathy Rigidity Hyperactivity Cardiomyopathy Cerebellar atrophy Vomiting Spasticity Venous thrombosis Anophthalmia High myopia Panniculitis Neurological speech impairment Abnormality of the hair Microtia Cleft lip Dilatation Chorioretinal atrophy Flexion contracture Melanonychia Vitreoretinopathy Chorioretinal dysplasia Erysipelas Intellectual disability, mild Abnormal nasolacrimal system morphology Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Gangrene Cellulitis Agitation Pneumonia Thrombocytopenia Nail dystrophy Congestive heart failure Hyperkeratosis Neoplasm Microdontia Hydronephrosis Clinodactyly of the 5th finger Macrotia Gastroesophageal reflux Frontal bossing High forehead Polyhydramnios High pitched voice Heterotopia Pectus excavatum Autism Encephalopathy Melanocytic nevus Delayed speech and language development Cerebral cortical atrophy Prominent forehead Posteriorly rotated ears Alopecia Multiple lentigines Hydrocephalus Abnormality of cardiovascular system morphology Cerebral atrophy Sparse hair Feeding difficulties in infancy Constipation Low-set, posteriorly rotated ears Hypoplastic toenails Abnormality of dental enamel Cutaneous syndactyly Polydactyly Renal hypoplasia/aplasia Hypospadias Reduced number of teeth Proximal placement of thumb Triangular nasal tip Overhanging nasal tip Syndactyly Broad fingertip Keratitis Aplasia/Hypoplasia of the skin Chorioretinal lacunae Dystonia Myopic astigmatism Abnormality of metabolism/homeostasis Abnormality of the helix Aplasia/Hypoplasia of the thumb Hypoplastic nipples Split hand Photophobia Abnormal pattern of respiration Large beaked nose Renal agenesis Renal dysplasia Recurrent urinary tract infections Pes valgus Ectodermal dysplasia Hypodontia Hypoplasia of the maxilla Happy demeanor Hypoplasia of dental enamel Square face Breathing dysregulation Hypohidrosis Sparse and thin eyebrow Small cerebral cortex Carious teeth Toe syndactyly Failure of eruption of permanent teeth Hypogonadotrophic hypogonadism Finger syndactyly Choanal atresia Intermittent hyperventilation Narrow foot Abnormal autonomic nervous system physiology Agenesis of corpus callosum Attention deficit hyperactivity disorder Tracheoesophageal fistula Protruding tongue Esophageal atresia Inverted nipples Bilateral sensorineural hearing impairment Widow's peak Pigmentary retinopathy Overgrowth Hypertension Retinal coloboma Microcornea Congenital ptosis Overfolded helix Fever Neonatal hypotonia U-Shaped upper lip vermilion Facial edema Reduced visual acuity Small thenar eminence Unilateral ptosis Prominent fingertip pads Duplication of phalanx of hallux Diarrhea Small posterior fossa Chorioretinal coloboma Trigonocephaly Exudative vitreoretinopathy Cortical gyral simplification Retinal thinning Brachycephaly External ear malformation Weight loss Prominent nasal tip Congenital microcephaly Retinal fold Conductive hearing impairment Camptodactyly Joint stiffness Coloboma Broad forehead Abnormality of the outer ear Arthrogryposis multiplex congenita Flat occiput Iris coloboma Bifid uvula Hypertrichosis Aortic valve stenosis Low anterior hairline Hoarse voice Anemia Spontaneous abortion Lissencephaly Bicuspid aortic valve Ectrodactyly Dysuria Blepharitis Severe failure to thrive Overlapping toe Supernumerary nipple Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Small face Maternal diabetes Severe intrauterine growth retardation Cupped ear Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure Radial deviation of finger Aphasia Lipodystrophy Pterygium Acanthosis nigricans Sandal gap Accelerated skeletal maturation Blue sclerae Burkitt lymphoma Increased serum insulin-like growth factor 1 Type II diabetes mellitus Tapered finger Truncal ataxia Widely spaced teeth Mutism Hypopigmented skin patches Aganglionic megacolon Cyanosis Convex nasal ridge Incoordination Prominent nose Hypopigmentation of the skin Single transverse palmar crease Severe global developmental delay Fatigue Prominent nasal bridge Short philtrum Short metatarsal Autistic behavior Intellectual disability, moderate Self-injurious behavior Pes planus Gait ataxia Clubbing Pes cavus Absent speech Talipes equinovarus Epidermal acanthosis Dysphasia Xerostomia Hypoplasia of the thymus Duplicated collecting system Thin nail Urethral stenosis Selective tooth agenesis Central diabetes insipidus Inflammatory abnormality of the eye Bladder diverticulum Aplasia/Hypoplasia of the nipples Entropion Lacrimation abnormality Anterior hypopituitarism Sparse pubic hair Nail pits Misalignment of teeth Intellectual disability, progressive Sparse axillary hair Generalized hypopigmentation Corneal erosion Fair hair Taurodontia Blue irides Echolalia Clubbing of fingers Split foot Abnormality of the nasopharynx Abnormality of the middle ear Vaginal neoplasm Esophagitis Short foot Hodgkin lymphoma Inability to walk Short distal phalanx of finger Short palm Thin vermilion border Hyperventilation Hiatus hernia Synophrys Muscular hypotonia of the trunk Acrocyanosis Narrow mouth Ureterocele Diabetes mellitus Obesity Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Megacystis Urethral atresia Dacryocystitis Delayed eruption of teeth Thoracic kyphosis Premature chromatid separation Bruising susceptibility Cardiomegaly Abnormality of the cardiovascular system Nephropathy Dental malocclusion Intestinal malrotation Neutropenia Abnormal cerebellum morphology Abnormal bleeding Palmoplantar keratoderma Gliosis High, narrow palate Hepatic steatosis Brain atrophy Migraine Falls Hemiparesis Joint hypermobility Peripheral axonal neuropathy Ichthyosis Genu valgum Pulmonic stenosis Hypotrichosis Abnormality of the cerebral white matter Pruritus Waddling gait Pectus carinatum Abnormal cardiac septum morphology Erythema Respiratory tract infection Irritability Myocardial infarction Inflammatory abnormality of the skin Telecanthus Relative macrocephaly Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Sparse eyebrow Autoimmunity Failure to thrive in infancy Brittle hair Hyperextensible skin Poor suck Stroke Stage 5 chronic kidney disease Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Hemangioma Hip dislocation Cutis laxa Oculomotor apraxia Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Platyspondyly Malabsorption Decreased testicular size Hypertrophic cardiomyopathy Neurodevelopmental delay Increased thyroid-stimulating hormone level Combined immunodeficiency Hypermelanotic macule Steatorrhea Glomerulopathy Protuberant abdomen Abnormality of the vasculature Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Shallow acetabular fossae Focal segmental glomerulosclerosis Steroid-resistant nephrotic syndrome Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Transient ischemic attack Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Emphysema Spondyloepiphyseal dysplasia EEG abnormality Lymphopenia Umbilical hernia Nephrotic syndrome Proptosis Hyperhidrosis Lumbar hyperlordosis Inguinal hernia Intellectual disability, profound Depressivity Hernia Abnormal lung morphology Abnormal form of the vertebral bodies Splenomegaly Behavioral abnormality Abnormality of epiphysis morphology Bone marrow hypocellularity Nephritis Opacification of the corneal stroma Atherosclerosis Hyperlipidemia Azoospermia Dysphagia Reduced bone mineral density Macrocephaly Dysarthria Hepatomegaly Chronic kidney disease Encephalitis Glomerulosclerosis Epiphyseal dysplasia Glomerulonephritis Aplasia/Hypoplasia of the eyebrow Neurofibromas Epidermoid cyst Meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Dementia Bifid ureter Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Narrow face Encephalocele Thin skin Polymicrogyria Occipital meningocele Cephalocele Joint hyperflexibility Aortic regurgitation Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Intestinal polyposis Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Holoprosencephaly Ovoid vertebral bodies Microretrognathia Osteolysis Multicystic kidney dysplasia Rhizomelia Depressed nasal ridge Ambiguous genitalia Dandy-Walker malformation Ascites Renal insufficiency Muscular dystrophy Craniosynostosis Immunodeficiency Headache Recurrent infections Retinal degeneration Congenital cataract Infantile spasms Premature skin wrinkling Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Hypoplasia of the zygomatic bone Hyperextensibility of the finger joints Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Developmental regression Alopecia of scalp Atopic dermatitis Poor appetite Hyperlordosis Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Abnormal aortic valve morphology Abnormality of the pulmonary artery Nyctalopia Hyperkeratosis pilaris Mental deterioration Proteinuria Visual impairment Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Tongue thrusting Excessive wrinkled skin Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Sparse or absent eyelashes Cavernous hemangioma Abnormality of hair texture Abnormal eyelid morphology


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