Immunodeficiency, and Convex nasal ridge

Diseases related with Immunodeficiency and Convex nasal ridge

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


Top matches:

High match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

High match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

High match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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Other less relevant matches:

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

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 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium 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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Convex nasal ridge

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

Patients with Immunodeficiency and Convex nasal ridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Failure to thrive Micrognathia Thrombocytopenia Recurrent infections Recurrent respiratory infections Small for gestational age Cryptorchidism Low-set ears Lymphopenia Deeply set eye Intrauterine growth retardation Leukemia Neoplasm Intellectual disability, moderate Bronchiectasis Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Epicanthus Prominent nasal bridge Long face Depressed nasal bridge Sparse hair Frontal bossing Cutaneous photosensitivity Lymphoma Ventriculomegaly Strabismus Abnormality of chromosome stability Abnormal facial shape High forehead Delayed skeletal maturation Sloping forehead Postnatal growth retardation Diarrhea Seizures Generalized hypotonia Low anterior hairline Scoliosis Pneumonia Ventricular septal defect Atrial septal defect Abnormality of the dentition Long philtrum Anemia Severe short stature Wide nasal bridge

Rare Symptoms - Less than 30% cases


Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Otitis media Chronic diarrhea Telangiectasia Ataxia Attention deficit hyperactivity disorder Prominent nose Short neck Respiratory insufficiency Hypospadias Upslanted palpebral fissure Abnormality of the nervous system Retrognathia Macrotia Hyperactivity Cafe-au-lait spot Cataract Combined immunodeficiency Hypertension Leukocytosis Respiratory tract infection Clinodactyly of the 5th finger Overweight Aganglionic megacolon Fine hair Joint hypermobility Malabsorption Joint laxity EEG abnormality Brachycephaly Constipation Abnormality of the skeletal system Hepatomegaly Muscular hypotonia Long nose Low hanging columella Hypothyroidism Cardiomyopathy Cognitive impairment Hypoplasia of penis Hearing impairment Recurrent infection of the gastrointestinal tract Rhabdomyosarcoma Glioma Medulloblastoma B-cell lymphoma Acute leukemia Anal stenosis Neuroblastoma Hypocalcemia Truncal obesity Inguinal hernia Bird-like facies Hypogonadism Prominent forehead Decrease in T cell count Laryngomalacia Hypoplasia of the corpus callosum Chronic lung disease Biparietal narrowing B lymphocytopenia Cortical gyral simplification Highly arched eyebrow Thin upper lip vermilion Recurrent urinary tract infections Cleft palate Abnormal lung morphology Respiratory distress Hernia Respiratory failure Polyhydramnios Posteriorly rotated ears Autism Micropenis Short philtrum Recurrent bacterial infections Decreased antibody level in blood Thin vermilion border Short palm Small hand Bulbous nose Abnormal heart morphology Coloboma Feeding difficulties in infancy Susceptibility to chickenpox Flaring of lower rib cage Abnormality of the pinna Absent pubertal growth spurt Pulmonic stenosis Unsteady gait Pulmonary lymphoma Abnormality of humoral immunity Biconvex vertebral bodies Thick eyebrow Severe T-cell immunodeficiency Hirsutism Sparse facial hair Abnormality of the kidney Flexion contracture Ptosis Narrow mouth Agenesis of corpus callosum Arrhythmia Glaucoma Patent ductus arteriosus Impaired lymphocyte transformation with phytohemagglutinin Polydactyly Syndactyly Pes planus Behavioral abnormality Dysphagia Proptosis Downslanted palpebral fissures Hyperreflexia High palate Gastroesophageal reflux Pectus excavatum Growth hormone deficiency Metaphyseal dysostosis Hodgkin lymphoma Tracheal stenosis Fair hair Heart block Upper limb undergrowth Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Macrocytic anemia Aplastic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Generalized joint laxity Abnormality of the pancreas Non-Hodgkin lymphoma Congenital hypoplastic anemia Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Single transverse palmar crease Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Spinal dysraphism Aplasia/Hypoplasia of the abdominal wall musculature Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Iris coloboma Dental crowding Recurrent fractures Talon cusp Dry skin Arthritis Hepatosplenomegaly Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Deviated nasal septum Ectodermal dysplasia Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Chorioretinal dystrophy Hypodontia Sparse scalp hair Duane anomaly Telecanthus Abnormality of bone marrow cell morphology Severe combined immunodeficiency Telangiectasia of the skin Psoriasiform dermatitis Myelodysplasia Type II diabetes mellitus Pancytopenia Lymphadenopathy Erythema Defective production of NFKB1-dependent cytokines Hypohidrosis Aplasia of the sweat glands Periorbital wrinkles Anhidrotic ectodermal dysplasia Lymphocytosis Concave nasal ridge Conical tooth Heat intolerance Agammaglobulinemia Autoimmunity Anhidrosis Keloids Prominent fingertip pads Hypoplasia of the maxilla Wide anterior fontanel Neurofibromas Congenital glaucoma Delayed cranial suture closure Broad hallux Impulsivity Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Narrow palate Exotropia Shawl scrotum Stereotypy Cone-shaped epiphysis Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Coarctation of aorta Dental malocclusion Dislocated radial head Poor coordination Frontal upsweep of hair Abnormal cornea morphology Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Nasolacrimal duct obstruction Pheochromocytoma Patellar dislocation Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Short attention span Hypoplastic iliac wing Capillary hemangioma Obstructive sleep apnea Self-mutilation Squamous cell carcinoma Gingival overgrowth Metaphyseal widening Recurrent bronchitis Penoscrotal hypospadias Anorectal anomaly Talipes equinovarus T-cell lymphoma Pollakisuria Abnormal hair quantity Recurrent sinopulmonary infections Protruding ear Abnormal eyelid morphology Malar prominence Asthma Hearing abnormality Acute lymphoblastic leukemia Ambiguous genitalia Decreased fetal movement Autoimmune hemolytic anemia Abnormality of the musculature Freckling Congenital diaphragmatic hernia Dysgammaglobulinemia Mastoiditis Hypertrichosis Obesity Narrow forehead Rigidity Mandibular prognathia Pointed chin Diabetes mellitus Pes cavus Babinski sign Clinodactyly Midface retrusion Progressive vitiligo Tented upper lip vermilion Gait disturbance Tremor Dysarthria Peripheral neuropathy Acne Sensorineural hearing impairment Nystagmus Everted upper lip vermilion Non-midline cleft lip Abnormality of neuronal migration Abnormal pyramidal sign Short foot Muscular hypotonia of the trunk Corneal opacity Astigmatism Skeletal muscle atrophy Muscle weakness Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Tetany Myopathy Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Bifid uvula Microphthalmia Hydronephrosis Premature ovarian insufficiency Choanal atresia Deep philtrum Cachexia Recurrent pneumonia Abnormality of the hair Sinusitis Pachygyria Narrow face Multicystic kidney dysplasia Abnormality of the face Primary amenorrhea Mental deterioration Clitoral hypertrophy Amenorrhea Scaphocephaly Recurrent lower respiratory tract infections Neurodegeneration Hemolytic anemia Cleft upper lip Anal atresia Pulmonary artery hypoplasia Retinopathy Dilated cardiomyopathy Portal hypertension Arthrogryposis multiplex congenita Gastrointestinal hemorrhage Postural instability Hypopigmentation of the skin Neutropenia Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Pectus carinatum Lumbar hyperlordosis Hyperlordosis Carcinoma Motor delay Skeletal dysplasia Kyphosis Alopecia Dilatation Splenomegaly Anteverted nares Abnormality of the ribs Blue sclerae Cleft lip Sparse eyelashes Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Short ribs Depressed nasal ridge Sparse and thin eyebrow Delayed myelination Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Recurrent viral infections Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Myopia Smooth philtrum Hypermetropia Limb undergrowth Insulin resistance Broad-based gait Renal hypoplasia Epidermal acanthosis Apraxia Hypotelorism Bradykinesia Pigmentary retinopathy Decreased testicular size Bone marrow hypocellularity Renal agenesis Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Sensory neuropathy Falls Dysmetria Synophrys Hypergonadotropic hypogonadism Short chin Visual impairment Cerebellar vermis atrophy Oral cleft Long neck Gastrointestinal stroma tumor Multinodular goiter Shuffling gait Misalignment of teeth Everted lower lip vermilion Increased circulating gonadotropin level Abnormality of lipid metabolism Ectopic kidney Acanthosis nigricans High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Leukopenia Large beaked nose



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