Depressed nasal bridge, and B-cell lymphoma

Diseases related with Depressed nasal bridge and B-cell lymphoma

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and B-cell lymphoma that can help you solving undiagnosed cases.


Top matches:

High match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


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

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Other less relevant matches:

High match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match CARDIOFACIOCUTANEOUS SYNDROME


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 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


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

Medium 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

Medium match PITT-HOPKINS SYNDROME


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

Medium match ACHONDROPLASIA; ACH


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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and B-cell lymphoma

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

Patients with Depressed nasal bridge and B-cell lymphoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Fine hair

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Macrotia

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Seizures Cryptorchidism Epicanthus Myopia Abnormal facial shape Strabismus Hearing impairment Neoplasm Anteverted nares Thrombocytopenia Sparse hair Prominent forehead Astigmatism Hypertelorism Failure to thrive Deep philtrum Thick vermilion border Microcephaly Sleep disturbance Lymphedema Gastroesophageal reflux Long philtrum Micrognathia Delayed speech and language development Motor delay Hypertension Macrocephaly Downslanted palpebral fissures Pneumonia Cardiomyopathy Flexion contracture Hypermetropia Intellectual disability, severe Cognitive impairment Lumbar hyperlordosis Splenomegaly Pectus carinatum Joint hypermobility Hypertonia Low-set, posteriorly rotated ears Edema Malar flattening Abnormal form of the vertebral bodies Mandibular prognathia Ptosis Atrial septal defect Joint laxity Aggressive behavior Frontal bossing Optic atrophy Feeding difficulties Anal stenosis Coarse hair Overgrowth Bilateral ptosis Kyphosis Full cheeks Convex nasal ridge Sparse eyelashes Hydronephrosis Sleep apnea Abnormal palate morphology Anemia Hyperlordosis Recurrent urinary tract infections Scarring Severe short stature Cafe-au-lait spot Upslanted palpebral fissure Constipation Lymphopenia Immunodeficiency Ataxia Limited elbow extension Inguinal hernia Diarrhea Wide nasal bridge Abnormality of the skeletal system Dry skin Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Nevus Coarse facial features Vesicoureteral reflux Back pain Growth hormone deficiency Narrow forehead Abdominal distention Vomiting Retinal dystrophy Congestive heart failure Microdontia Neutropenia Pain Bulbous nose Premature birth Neurological speech impairment Abnormality of skin pigmentation Malabsorption Abnormal lung morphology Abnormality of the dentition Corneal opacity Abnormality of epiphysis morphology Umbilical hernia Abnormality of the kidney Nail dystrophy Thin upper lip vermilion Osteopenia Recurrent infections Platyspondyly Spondyloepiphyseal dysplasia Autism Rhizomelia EEG abnormality Abnormal cardiac septum morphology Pes cavus Hypotrichosis Clinodactyly Joint hyperflexibility Micromelia Small hand Hypopigmentation of the skin Talipes equinovarus Abnormality of the metaphysis Aganglionic megacolon Abnormality of retinal pigmentation Alopecia Neonatal short-limb short stature Sparse and thin eyebrow Short ribs Accelerated skeletal maturation Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Genu varum Thin nail Tibial bowing Generalized joint laxity Hodgkin lymphoma Fair hair Skeletal dysplasia Dilatation Hyperkeratosis Hydrocephalus Epiphyseal dysplasia Hyperhidrosis Melanocytic nevus Prominent fingertip pads Encephalopathy Micropenis Hernia Multiple cafe-au-lait spots Cleft lip Overlapping toe Behavioral abnormality Blindness Ventriculomegaly Hepatomegaly Subvalvular aortic stenosis Dysarthria Cellular immunodeficiency Cataract Nystagmus Mucopolysacchariduria Multiple lentigines Oral cleft Abnormal T cell morphology Thick eyebrow Abnormality of the pinna Apnea Flat occiput Short attention span Chylothorax Low-set ears Sensorineural hearing impairment Abnormality of chromosome stability Hypoplasia of the corpus callosum Hydroureter Large for gestational age Rigidity Neonatal hypotonia Chronic otitis media Protruding ear Scaling skin Acute lymphoblastic leukemia Abnormality of cardiovascular system morphology Pectus excavatum Posteriorly rotated ears Polyhydramnios High forehead Feeding difficulties in infancy Postnatal growth retardation Broad forehead Pulmonic stenosis Underdeveloped supraorbital ridges Neuroblastoma Bruising susceptibility Intellectual disability, moderate Cleft palate Intrauterine growth retardation Thickened helices Respiratory insufficiency Hypospadias Slow-growing hair Hyperactivity Retrognathia Abnormality of the nervous system Attention deficit hyperactivity disorder Abnormal eyelash morphology Prominent nasal bridge Cleft upper lip Prominent nose Otitis media Amenorrhea Sloping forehead Choanal atresia Bronchiectasis Combined immunodeficiency Falls Spasticity Aplasia/Hypoplasia of the corpus callosum Poor suck Cutis laxa Open mouth Thickened skin Thick lower lip vermilion Hyperpigmentation of the skin Hydrocele testis Dysuria Thoracolumbar kyphosis Low posterior hairline Pointed chin Cyanosis Wide intermamillary distance Proximal placement of thumb Neurodevelopmental delay Webbed neck Specific learning disability Failure to thrive in infancy Abnormal bleeding Cubitus valgus Pleural effusion Optic nerve hypoplasia Hypoplasia of dental enamel Anterior creases of earlobe Skin ulcer Muscle stiffness Endocarditis Frontal balding Hypoplasia of the frontal lobes Renal hypoplasia/aplasia Split hand Cutaneous syndactyly Hypohidrosis Optic nerve dysplasia Abnormal tricuspid valve morphology Patchy alopecia Abnormality of the optic disc Abnormality of dental enamel Hypogonadotrophic hypogonadism Renal dysplasia Broad nasal tip Increased nuchal translucency Xerostomia Generalized hypopigmentation Cavernous hemangioma Corneal erosion Patent foramen ovale Agitation Taurodontia Blue irides Depressed nasal tip Venous thrombosis Split foot Cortical gyral simplification Chorioretinal atrophy Reduced number of teeth Blepharitis External ear malformation Ectrodactyly Hypoplastic nipples Aplasia/Hypoplasia of the thumb Sparse or absent eyelashes Aplasia/Hypoplasia of the skin Keratitis Cellulitis Generalized ichthyosis Hypoplastic toenails Gangrene Sparse scalp hair Renal agenesis Laryngeal cleft Wide nose Visual loss Glaucoma Reduced visual acuity Photophobia Status epilepticus Leukonychia Polydactyly Syndactyly Retinal fold Congenital microcephaly Retinopathy Bilateral sensorineural hearing impairment Intellectual disability, mild Pigmentary retinopathy Prominent nasal tip Retinal detachment Chorioretinal lacunae Melanonychia Myopic astigmatism Abnormal nasolacrimal system morphology Chorioretinal dysplasia Exudative vitreoretinopathy Microcornea Retinal thinning Erysipelas Microphthalmia Anophthalmia Functional abnormality of the gastrointestinal tract Inappropriate crying Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Panniculitis Ectodermal dysplasia Amblyopia Morphological abnormality of the gastrointestinal tract Hypodontia Hypoplasia of the maxilla Cutaneous T-cell lymphoma Carious teeth Retinal dysplasia Toe syndactyly Abnormality of the auditory canal Vitreoretinopathy Subcutaneous nodule Multiple palmar creases Finger syndactyly Eyelid fasciculation Multiple plantar creases Oral aversion Microtia Blepharophimosis Abnormal toenail morphology Sparse axillary hair Supernumerary nipple Sparse pubic hair Obstructive lung disease Multiple epiphyseal dysplasia Hypoxemia Myelopathy Recurrent ear infections Chronic myelogenous leukemia Central sleep apnea Cervical myelopathy Hypopnea Abnormality of femur morphology Cervical cord compression Iritis Small foramen magnum Childhood onset short-limb short stature Brain stem compression Limited hip extension Trident hand Spinal stenosis with reduced interpedicular distance Cor pulmonale Central apnea Lumbar kyphosis in infancy Myeloid leukemia Paraparesis Acanthosis nigricans Infantile muscular hypotonia Short long bone Tinnitus Flared metaphysis Short femoral neck Bowel incontinence Disproportionate short stature Upper airway obstruction Hip contracture Spinal canal stenosis Abnormality of the elbow Obstructive sleep apnea Spinal cord compression Megalencephaly Osteopetrosis Communicating hydrocephalus Myelitis Camptodactyly Short toe Short fourth metatarsal Broad face Dilation of lateral ventricles Broad philtrum Dimple chin Poor fine motor coordination Calcaneovalgus deformity Teratoma Galactorrhea Vertebral wedging Hypoplastic iliac wing Horizontal eyebrow Deep-set nails Sacrococcygeal teratoma Lumbar kyphosis Flared femoral metaphysis Limited knee extension Abnormally low-pitched voice Flared humeral metaphysis Large earlobe Diastasis recti Talipes Coxa valga Round face Nail dysplasia Hypertrichosis Pachygyria Broad thumb Tall stature Joint contracture of the hand Hoarse voice Slurred speech Down-sloping shoulders Large hands Radial deviation of finger Metatarsus adductus Bilateral talipes equinovarus Absent septum pellucidum Secondary amenorrhea Inverted nipples Prolactin excess Clonus Recurrent otitis media Hypoplasia of the thymus Anxiety Generalized microdontia Absence of Stensen duct Fatigue Absent speech Gait ataxia Pes planus Deeply set eye Autistic behavior Transverse vaginal septum Wide mouth Short philtrum Severe global developmental delay Tapered finger Single transverse palmar crease Postnatal microcephaly Truncal ataxia Abnormal autonomic nervous system physiology Periorbital hyperpigmentation Mesoaxial polydactyly Intellectual disability, progressive Urethral stenosis Anterior hypopituitarism Lacrimation abnormality Entropion Aplasia/Hypoplasia of the nipples Bladder diverticulum Inflammatory abnormality of the eye Central diabetes insipidus Selective tooth agenesis Duplicated collecting system Abnormality of the inner ear Abnormality of the nasopharynx Nail pits Abnormality of the middle ear Ureterocele Dacryocystitis Urethral atresia Megacystis Aplasia/Hypoplasia of the breasts Finger clinodactyly Widely spaced teeth Osteoarthritis Hyperreflexia Square face Small cerebral cortex Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Broad fingertip Triangular nasal tip Overhanging nasal tip Brachydactyly Happy demeanor Midface retrusion Obesity Weight loss Arthralgia Conductive hearing impairment Confusion Epidermal acanthosis Tetraparesis Large beaked nose Pes valgus Mutism Dysphasia Hypopigmented skin patches Incoordination Short metatarsal Self-injurious behavior Clubbing Cupped ear Excessive wrinkled skin Aphasia Hyperventilation Abnormal pattern of respiration Hiatus hernia Acrocyanosis Esophagitis Misalignment of teeth Echolalia Clubbing of fingers Abnormality of the helix Breathing dysregulation Abnormality of hair texture Cerebral cortical atrophy Abnormality of the pulmonary artery Nephrotic syndrome Abnormal cerebellum morphology Gliosis Brain atrophy Migraine Waddling gait Decreased testicular size Intellectual disability, profound Stage 5 chronic kidney disease Heterotopia Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Hyperlipidemia Azoospermia Reduced bone mineral density Nephropathy Hip dislocation Encephalitis Fever Hypoplasia of olfactory tract Reduced factor XII activity Juvenile myelomonocytic leukemia Reduced prothrombin activity Reduced factor X activity Abnormality of the subarachnoid space Cerebellar atrophy Stroke Renal insufficiency Headache Dementia Hypothyroidism Proteinuria Developmental regression Autoimmunity Chronic kidney disease Glomerulosclerosis Abnormality of the mediastinum Moyamoya phenomenon Hypoplasia of the capital femoral epiphysis Steroid-resistant nephrotic syndrome Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal immunoglobulin level Premature arteriosclerosis Right ventricular cardiomyopathy Anterior pituitary dysgenesis Nephrosclerosis Lateral displacement of the femoral head Visual impairment Brachycephaly Carcinoma Arthrogryposis multiplex congenita Arteriosclerosis Dentinogenesis imperfecta Glomerulonephritis Protuberant abdomen Nephritis Focal segmental glomerulosclerosis Emphysema High pitched voice Hypermelanotic macule Steatorrhea Glomerulopathy Abnormality of the vasculature Precocious atherosclerosis Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature Lymphoproliferative disorder Villous atrophy Cerebral ischemia Reduced factor IX activity Arteritis Short palm Hearing abnormality Abnormality of neuronal migration Non-midline cleft lip Long nose Freckling Abnormality of the musculature Autoimmune hemolytic anemia Acute leukemia Cachexia Abnormal eyelid morphology Recurrent bronchitis Recurrent sinopulmonary infections Medulloblastoma Glioma Rhabdomyosarcoma Abnormal hair quantity Premature ovarian insufficiency Recurrent pneumonia B lymphocytopenia Hemolytic anemia Muscle weakness Skeletal muscle atrophy Recurrent respiratory infections Respiratory failure Mental deterioration Small for gestational age Anal atresia Neurodegeneration Low anterior hairline Cutaneous photosensitivity Primary amenorrhea Abnormality of the face Chronic diarrhea Telangiectasia Sinusitis Abnormality of the hair Decrease in T cell count Pollakisuria Pulmonary lymphangiectasia Abnormality of the thorax Aortic valve stenosis Bilateral single transverse palmar creases Vasculitis Torticollis Bicuspid aortic valve Cholelithiasis Overfolded helix Mitral regurgitation Decreased muscle mass Abnormal eyebrow morphology Facial hypotonia Abnormality of the spleen Hypochromic microcytic anemia Broad toe Monocytosis Hydrops fetalis Epistaxis T-cell lymphoma Gait disturbance Recurrent infection of the gastrointestinal tract Anorectal anomaly Penoscrotal hypospadias Dysgammaglobulinemia Malar prominence Mastoiditis Progressive vitiligo Respiratory distress Hip dysplasia Myopathy Hepatosplenomegaly Abnormality of the foot Highly arched eyebrow Ascites Triangular face Esotropia Narrow chest Postural instability Hyperextensibility of the finger joints Abnormality of the genitourinary system Cerebral visual impairment Aspiration Abnormality of the nail Narrow palate Oculomotor apraxia Hemangioma Delayed gross motor development Inflammatory abnormality of the skin Palmoplantar hyperkeratosis Abnormality of vision Relative macrocephaly Hyperextensible skin Redundant skin Brittle hair Sparse eyebrow Decreased body weight Hemiparesis Heart murmur Hepatic steatosis Dolichocephaly Abnormality of the cerebral white matter Genu valgum Ichthyosis Peripheral axonal neuropathy Long face High, narrow palate Myocardial infarction Palmoplantar keratoderma Intestinal malrotation Dental malocclusion Progressive visual loss Abnormality of the cardiovascular system Cardiomegaly Coarctation of aorta Ectropion Obsessive-compulsive behavior Erythema Abnormality of the optic nerve Abnormality of the ulna Abnormality of the gastrointestinal tract Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the testis Hypoplasia of the zygomatic bone Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Abnormal aortic valve morphology Premature skin wrinkling Absent eyelashes Absent eyebrow Abnormal heart valve morphology Open bite Malnutrition Aplasia/Hypoplasia of the eyebrow Neurofibromas Infantile spasms Abnormality of the sternum Long palpebral fissure Biparietal narrowing Enlarged kidney Curly hair Generalized hyperpigmentation Submucous cleft hard palate Poor appetite Atopic dermatitis Alopecia of scalp Arnold-Chiari type I malformation Pruritus Respiratory tract infection Gastrointestinal hemorrhage Thrombocytosis Metaphyseal dysplasia Macrocytic anemia Hypoplasia of the odontoid process Esophageal atresia Distal arthrogryposis Exocrine pancreatic insufficiency Overweight Abnormality of the hip bone Upper limb undergrowth Heart block Tracheal stenosis Aplastic anemia Abnormality of the pancreas Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia affecting the eye High hypermetropia Basal cell carcinoma Metaphyseal cupping Neoplasm of the skin Decreased antibody level in blood Abnormality of the ribs Blue sclerae Depressed nasal ridge Bowing of the long bones Gingival overgrowth Hypocalcemia Reduced tendon reflexes Femoral bowing Sacral dimple Portal hypertension Metaphyseal widening Cone-shaped epiphysis Squamous cell carcinoma Short thorax Mesomelia Metaphyseal chondrodysplasia Bronchiolitis Irritability Short nose Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma High palate Dysphagia Ventricular septal defect Cerebral atrophy Abnormality of humoral immunity Depressivity Abnormal heart morphology Clinodactyly of the 5th finger Proptosis Hypertrophic cardiomyopathy Telecanthus Abnormality of the eye Absent pubertal growth spurt Biconvex vertebral bodies Diaphyseal thickening Abnormally ossified vertebrae Abnormal diaphysis morphology Normocytic anemia Hypersplenism Large face Spinal dysraphism Congenital hypoplastic anemia Abnormal bone ossification Hypoplastic anemia Severe T-cell immunodeficiency Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Dysharmonic bone age



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