Immunodeficiency, and Camptodactyly of finger

Diseases related with Immunodeficiency and Camptodactyly of finger

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

Top matches:

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Other less relevant matches:

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY 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

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Camptodactyly of finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Camptodactyly of finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Toe syndactyly

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Brachydactyly Hernia Downslanted palpebral fissures Hearing impairment Hypospadias Cryptorchidism Generalized hypotonia Recurrent respiratory infections Smooth philtrum Short palm Sensorineural hearing impairment Joint hyperflexibility Attention deficit hyperactivity disorder Thin upper lip vermilion Ventricular septal defect Cleft palate Facial asymmetry High forehead Pes planus Atrial septal defect Clinodactyly of the 5th finger Recurrent infections Behavioral abnormality Hydronephrosis Feeding difficulties Macrocephaly Short neck Patent ductus arteriosus Micrognathia Low-set ears Failure to thrive Camptodactyly Sandal gap Wide nasal bridge Depressed nasal bridge Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Highly arched eyebrow High, narrow palate Prominent nasal bridge Delayed speech and language development Epicanthus Intellectual disability, severe Kyphosis Nystagmus Hypogonadism Postnatal growth retardation Abnormal heart morphology Abnormal cardiac septum morphology Prominent forehead Optic atrophy Unilateral renal agenesis Cerebellar hypoplasia Frontal bossing Growth hormone deficiency Iris coloboma Feeding difficulties in infancy Neurological speech impairment Clinodactyly Dilatation Microphthalmia Long philtrum Short nose Strabismus Tics Short thumb Interphalangeal joint contracture of finger Abnormality of earlobe Hip dislocation Deeply set eye Pyloric stenosis Premature birth Narrow mouth Long face Pointed chin Arachnodactyly Underdeveloped nasal alae Blepharophimosis Choanal atresia

Rare Symptoms - Less than 30% cases

Atrioventricular canal defect Hypoplastic left heart Toe clinodactyly Double outlet right ventricle Missing ribs Flared nostrils Slender finger Chorioretinal coloboma Cupped ear Hand polydactyly Lymphedema Proximal placement of thumb Alopecia Truncus arteriosus Horseshoe kidney Upslanted palpebral fissure Neoplasm Anteverted nares Intellectual disability, mild Tetralogy of Fallot Abnormality of the musculature Urticaria Posteriorly rotated ears Macrotia Mitral stenosis Low-set, posteriorly rotated ears Developmental regression Recurrent bacterial infections Broad forehead Small for gestational age Single transverse palmar crease Tapered finger Ectopic anus Aortic valve stenosis Agenesis of corpus callosum Pulmonic stenosis Retinal dysplasia Abnormal eyelash morphology Dandy-Walker malformation Renal agenesis Hypoplastic fingernail Webbed neck Osteoporosis Abnormality of the hand Osteopenia Coarse facial features Thrombocytopenia Cerebellar atrophy Abnormality of the skeletal system Ptosis Ulnar deviation of finger Hydrocephalus Cerebral cortical atrophy Talipes Polydactyly Spina bifida Preauricular skin tag Abnormality of the kidney Decreased antibody level in blood Intestinal malrotation Postural instability Hemivertebrae Anal atresia Finger syndactyly Coloboma Eczema Severe short stature Syndactyly Multicystic kidney dysplasia Malar flattening Widely spaced teeth Wide mouth Pes cavus Depressivity Bowing of the long bones Aggressive behavior Hypertonia Short distal phalanx of finger Absent speech Thick lower lip vermilion Hypoplasia of penis Obesity Hyperhidrosis Motor delay Hyperactivity Small hand Polymicrogyria Micropenis Bulbous nose Hyperlordosis Synophrys Short philtrum Intellectual disability, moderate Recurrent urinary tract infections Joint laxity Absent toenail Absent fingernail High palate Oculomotor apraxia Bowel incontinence Aortic regurgitation Coxa valga Obsessive-compulsive behavior Branchial fistula Aortic aneurysm Language impairment Ankyloglossia Dolichocephaly Leukemia Reduced visual acuity Tachycardia Skin rash Bruising susceptibility Microcornea Craniosynostosis Narrow chest Bilateral sensorineural hearing impairment Midface retrusion Pachygyria Short toe Sinusitis Congenital contracture Malabsorption Joint stiffness Amblyopia Abnormal form of the vertebral bodies Small face Pancytopenia Coarctation of aorta Dehydration Microdontia Otitis media Preauricular pit Hypoglycemia Telecanthus Downturned corners of mouth Retrognathia Abnormality of the sternum Anomalous pulmonary venous return Asymmetric crying face Protein-losing enteropathy Mild microcephaly Congenital nystagmus Abnormality of the periventricular white matter Pericardial effusion Increased mean platelet volume Overlapping toe Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Abnormal intestine morphology Progressive microcephaly Narrow forehead Total anomalous pulmonary venous return Macrothrombocytopenia Hypothyroidism Nevus Exotropia Constipation Retinal detachment Ascites Pectus excavatum Cerebral atrophy Congestive heart failure Intestinal lymphangiectasia Dental malocclusion Body odor Abnormality of the dentition Dermoid cyst Spasticity Cataract Eversion of lateral third of lower eyelids Talipes equinovarus Mesomelia Leukodystrophy Megakaryocyte dysplasia Gastroesophageal reflux Aplasia/Hypoplasia of the nipples Glaucoma Complete atrioventricular canal defect Brachycephaly Lethal skeletal dysplasia Abnormal tricuspid valve morphology Abnormality of the curvature of the vertebral column Abnormality of the fontanelles or cranial sutures Abnormal mitral valve morphology Posterior fossa cyst Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Contractures of the large joints Giant platelets Skeletal dysplasia Communicating hydrocephalus Clitoral hypoplasia Cerebellar vermis hypoplasia Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Narrow palate Wormian bones Congenital glaucoma Large fontanelles Abnormality of the hip bone Narrow nasal bridge Low posterior hairline Cleft lip Posterior embryotoxon Adrenal hypoplasia Limb undergrowth Pierre-Robin sequence Single umbilical artery Bifid uvula Oral cleft Sparse hair Enlarged cisterna magna Macular hypoplasia Central hypothyroidism Hemangioma Trigonocephaly Partial agenesis of the corpus callosum Vesicoureteral reflux Renal hypoplasia Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Ectropion Congenital hip dislocation Transposition of the great arteries Schizophrenia Infantile muscular hypotonia Spina bifida occulta Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Prominent occiput Bone marrow hypocellularity Natal tooth Wheezing U-Shaped upper lip vermilion Nuclear cataract Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Unilateral chest hypoplasia Broad hallux phalanx Bipolar affective disorder Facial hemangioma Humoral immunodeficiency Duodenal atresia Eyelid coloboma Cerebellar malformation Chronic constipation Diastasis recti Primum atrial septal defect Facial palsy Ataxia Absent eyebrow Ichthyosis follicularis Skin ulcer Cafe-au-lait spot Abnormality of the genital system Open mouth Fine hair Small nail Congenital diaphragmatic hernia Hyperpigmentation of the skin Delayed myelination Sleep disturbance Wide nose Hoarse voice Thin vermilion border Hypermetropia Severe global developmental delay Autistic behavior Protruding ear Polycystic ovaries Muscular hypotonia of the trunk Polyhydramnios Autism Sparse and thin eyebrow Narrow face Abnormality of dental morphology Overlapping fingers Anisocoria Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Intestinal atresia Microphallus Thick upper lip vermilion Bilateral single transverse palmar creases High anterior hairline Insomnia Abnormality of digit Mild short stature Radial deviation of finger Abnormality of the thorax Abnormality of the voice Nasal speech Abnormality of the outer ear Microretrognathia Increased susceptibility to fractures Steatorrhea Large fleshy ears Macroglossia Relative macrocephaly Acanthosis nigricans Narrow palpebral fissure Gynecomastia Broad-based gait Intention tremor Decreased testicular size Memory impairment Prominent nose Short foot Cubitus valgus Joint hypermobility Delayed puberty Abnormality of the pinna EEG abnormality Mandibular prognathia Gait ataxia Gait disturbance Tremor Skeletal muscle atrophy Cachexia Large hands Telangiectasia of the skin Panhypopituitarism Osteomalacia Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Abnormality of toe Moderately short stature Mood swings Small earlobe Abdominal obesity Abnormal hair pattern Open bite Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Truncal obesity Cortical gyral simplification Cortical dysplasia Dysplastic corpus callosum Long palm Abnormal pelvis bone morphology Absent septum pellucidum Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Mixed hearing impairment Absent eyelashes Hydroureter Keratitis Intestinal obstruction Bifid scrotum Micromelia Erythroderma Psoriasiform dermatitis Scaling skin Plagiocephaly Blepharitis Abnormal eyelid morphology Abnormality of dental enamel Subcortical cerebral atrophy Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Corneal scarring Corneal erosion Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Follicular hyperkeratosis Opacification of the corneal stroma Conjunctivitis Conspicuously happy disposition Umbilical hernia Recurrent fractures Corneal opacity Scarring Erythema Respiratory tract infection Subcutaneous nodule Mental deterioration Thickened skin Photophobia Hyperkeratosis Nail dystrophy Dementia Chronic diarrhea Delayed skeletal maturation Respiratory distress Gingival overgrowth Myopia Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Papule Platyspondyly Abnormality of the nail Oligohydramnios Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Epidermal acanthosis Abnormality of the ribs Postaxial hand polydactyly Hypotrichosis Specific learning disability Nail dysplasia Ectodermal dysplasia Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Astigmatism Lymphadenopathy


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