Wide nasal bridge, and Pancytopenia

Diseases related with Wide nasal bridge and Pancytopenia

In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Pancytopenia that can help you solving undiagnosed cases.


Top matches:

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

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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

High 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

High match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

High match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Medium match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Pancytopenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Pancytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Anemia

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Short stature Immunodeficiency Frontal bossing Prominent forehead Recurrent infections Atrial septal defect Abnormal heart morphology Patent ductus arteriosus Telangiectasia Anteverted nares Ventricular septal defect Leukemia Splenomegaly Short neck Hepatosplenomegaly Hernia Low-set ears Hypothyroidism Intrauterine growth retardation Telecanthus Microcephaly Hydrocephalus Long philtrum Pectus carinatum Micrognathia Sensorineural hearing impairment Abnormality of chromosome stability Cryptorchidism Abnormality of the skeletal system Hearing impairment Small for gestational age Abnormal cardiac septum morphology Bone marrow hypocellularity Low-set, posteriorly rotated ears Edema Flexion contracture Micropenis Pneumonia Decreased antibody level in blood Hydronephrosis Neoplasm Wide mouth Lymphadenopathy Malabsorption

Rare Symptoms - Less than 30% cases


Narrow chest Hypotrichosis Alopecia Skeletal dysplasia Severe short stature Constipation Delayed skeletal maturation Cardiomyopathy Muscular hypotonia Strabismus Scoliosis Abnormal thrombocyte morphology Abnormality of the pancreas Large forehead Thrombocytosis Hepatic fibrosis Postural instability Macrocephaly Blue sclerae Coarctation of aorta Pes planus Camptodactyly Attention deficit hyperactivity disorder Hip dislocation Anal atresia Growth hormone deficiency Azoospermia Recurrent respiratory infections Bilateral camptodactyly Full cheeks Hyperreflexia Synophrys Abnormality of the foot Fever Abnormality of the kidney Hypogonadism Clinodactyly Abnormal form of the vertebral bodies Spasticity Bronchiectasis Gingival overgrowth Lymphopenia Abnormal palate morphology Esophageal atresia Exocrine pancreatic insufficiency Ptosis Pectus excavatum Brachydactyly Fine hair Optic atrophy Ventriculomegaly Intellectual disability, mild Short nose Microphthalmia Depressed nasal ridge Generalized hypotonia Downslanted palpebral fissures Combined immunodeficiency Microtia Telangiectasia of the skin Proptosis Biparietal narrowing Wide intermamillary distance Abnormality of the dentition Hypoplasia of penis Osteoporosis Respiratory tract infection Clinodactyly of the 5th finger Delayed puberty Renal hypoplasia Broad forehead Leukocytosis Cirrhosis Severe combined immunodeficiency Wide nose Psoriasiform dermatitis Premature birth Brachycephaly Proteinuria Myopia Intellectual disability, moderate Thin vermilion border Sparse hair Cognitive impairment Cataract Lymphoma Diarrhea Abnormality of the curvature of the vertebral column Tracheoesophageal fistula Umbilical hernia Megakaryocyte dysplasia Chromosome breakage Congenital thrombocytopenia Hypoplasia of the radius Depressed nasal tip Cafe-au-lait spot Cleft palate Rectovaginal fistula Absent thumb Respiratory distress Forearm undergrowth Cerebral calcification Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Coarse hair Joint contracture of the hand Thickened skin Long eyelashes Abnormal lung morphology Delayed myelination Hypoplastic sacrum Brain atrophy Macroglossia Hepatic steatosis Thick vermilion border Hirsutism Intellectual disability, severe Abnormal pyramidal sign Hypertrophic cardiomyopathy Renal insufficiency Coarse facial features Malar flattening Arteria lusoria Tetralogy of Fallot Internal hemorrhage Hammertoe Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Heart murmur Double outlet right ventricle Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Abnormal eyelash morphology Missing ribs Annular pancreas Abnormality of the head Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Acetabular dysplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Nasolacrimal duct obstruction Diastasis recti Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Flared iliac wings Conductive hearing impairment Macrovesicular hepatic steatosis Myelofibrosis Midface retrusion Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Generalized lymphadenopathy Autism Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Obesity Autistic behavior Decreased serum testosterone level Poor suck Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Dextrocardia Clitoral hypertrophy Patent foramen ovale Deep philtrum Increased head circumference Cutis laxa Situs inversus totalis Hydrops fetalis Decreased liver function Wide anterior fontanel Oligohydramnios Asthma Abnormal bleeding Triangular face Short philtrum Postnatal macrocephaly Recurrent pharyngitis Communicating hydrocephalus J-shaped sella turcica Flat face Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Decreased testicular size Recurrent fractures Polyneuropathy Cleft upper lip Hypertrichosis Ichthyosis Retinopathy Apnea Spina bifida Dyspnea Hyperkeratosis Diabetes mellitus Posteriorly rotated ears Hypoplastic acetabulae Obstructive lung disease Hypertriglyceridemia Primary amenorrhea Varicose veins Increased antibody level in blood Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Hallux valgus Hyperpigmentation of the skin Hyperglycemia Stridor Lipodystrophy Sleep apnea Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Gynecomastia Blepharophimosis Webbed neck Aortic valve stenosis Abnormality of the metaphysis Hypocalcemia Short ribs Sparse and thin eyebrow Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Acute leukemia Abnormality of bone marrow cell morphology Accelerated skeletal maturation Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Bird-like facies Gastrointestinal hemorrhage Large beaked nose Hypopigmentation of the skin Neutropenia Small hand Short palm Sparse eyelashes Neoplasm of the skin Micromelia Limited elbow extension Distal arthrogryposis Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Femoral bowing Reduced tendon reflexes Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Joint hypermobility Joint hyperflexibility Overweight Underdeveloped supraorbital ridges Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Hepatic failure Villous atrophy Woolly hair Sepsis Iron deficiency anemia Increased serum iron Curly hair Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Bifid uvula Chronic diarrhea Hypergalactosemia Renal cortical microcysts Arthrogryposis multiplex congenita Dilatation Hyperlordosis Narrow mouth Joint laxity Carcinoma EEG abnormality Macrotia Polyhydramnios Jaundice Elevated hepatic transaminase Abnormality of the pinna Abnormality of the liver Hypermethioninemia Respiratory insufficiency Hypertension Visual impairment Pulmonic stenosis Dry skin Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Myelodysplasia Upper limb undergrowth Leukodystrophy Osteopenia Skin rash Coloboma Craniosynostosis Postnatal growth retardation Feeding difficulties in infancy Thick lower lip vermilion Hypoglycemia Thin upper lip vermilion Renal dysplasia Retrognathia High forehead Neurological speech impairment Abnormal dermatoglyphics Bifid scrotum Agenesis of corpus callosum Inguinal hernia Congenital sensorineural hearing impairment Hypoplastic nipples Hypospadias Abnormality of cardiovascular system morphology Cerebral atrophy Aplasia/Hypoplasia of the nipples Finger syndactyly Dolichocephaly Chordee Everted lower lip vermilion Short toe Sinusitis Short thumb Amblyopia Pachygyria Stage 5 chronic kidney disease Eczema Dehydration Microdontia Otitis media Aciduria Toe syndactyly Intestinal malrotation Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Tachycardia Dental malocclusion Smooth philtrum Talipes Facial asymmetry Syndactyly Delayed speech and language development Heart block Diaphyseal thickening Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Bronchiolitis Abnormal T cell morphology Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Hypoplastic anemia Abnormality of the distal phalanx of finger Behavioral abnormality Pulmonary lymphoma Congestive heart failure Upslanted palpebral fissure Talipes equinovarus Abnormality of the nervous system Erythema Feeding difficulties Type II diabetes mellitus Cutaneous photosensitivity Low anterior hairline Seizures Susceptibility to chickenpox Narrow vertebral interpedicular distance Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Abnormality of glutamine metabolism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Short distal phalanx of finger, related diseases and genetic alterations Myopia and Mitral valve prolapse, related diseases and genetic alterations

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