Immunodeficiency, and Clinodactyly

Diseases related with Immunodeficiency and Clinodactyly

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

Top matches:

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Low 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

Other less relevant matches:

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Clinodactyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly of the 5th finger Seizures Malar flattening Epicanthus Postnatal growth retardation Micrognathia Cryptorchidism Neoplasm Abnormal facial shape Pes planus Generalized hypotonia Brachydactyly Macrocephaly Short nose Short neck Sandal gap Anteverted nares Edema Depressed nasal bridge Wide nasal bridge Lymphadenopathy Agenesis of corpus callosum Obesity Leukemia Recurrent respiratory infections Muscular hypotonia Recurrent infections Delayed speech and language development Combined immunodeficiency Hepatomegaly High forehead Acute leukemia

Rare Symptoms - Less than 30% cases

Long philtrum Midface retrusion Hypospadias Micropenis Renal cyst Hyperlordosis Coxa valga Cleft palate Tics Hypertelorism Abnormality of earlobe Large hands Sacral dimple Pointed chin Bulbous nose Short palm Bowing of the long bones Joint hyperflexibility Sinusitis Joint laxity Narrow mouth Kyphosis Motor delay Scoliosis Smooth philtrum Short distal phalanx of finger Short metacarpal Downslanted palpebral fissures Ventricular septal defect Hypogonadism Thin upper lip vermilion Premature birth Toe syndactyly Underdeveloped nasal alae Prominent nose Narrow palpebral fissure Hyperhidrosis Deeply set eye Severe short stature Irregular vertebral endplates Pneumonia Intellectual disability, mild Inguinal hernia Blepharophimosis Camptodactyly of finger Dolichocephaly Ventriculomegaly Brachycephaly Respiratory failure Cutaneous photosensitivity Telangiectasia Hypoplasia of penis Myelodysplasia Failure to thrive Telangiectasia of the skin Recurrent viral infections Biparietal narrowing Abnormality of chromosome stability Lymphoma Anemia Splenomegaly Erythema Delayed skeletal maturation Small for gestational age Chromosome breakage Upslanted palpebral fissure Thrombocytopenia Hyperactivity Type II diabetes mellitus Abnormality of the musculature Proximal fibular overgrowth Tachypnea Single transverse palmar crease Truncal obesity Phalangeal dislocation Retinal dystrophy Downturned corners of mouth Supernumerary metacarpal bones Finger clinodactyly Multiple carpal ossification centers Recurrent pneumonia Tachycardia Meningitis Hepatosplenomegaly Short toe Broad first metatarsal Cerebellar vermis atrophy Medial deviation of the foot Splayed fingers Recurrent otitis media Fatigue Cardiomegaly Vomiting Eczema Partial duplication of the distal phalanx of the hallux Radioulnar dislocation Large joint dislocations Advanced tarsal ossification Metaphyseal widening Protuberant abdomen Cystic hygroma Congenital glaucoma Abdominal obesity Thoracic hypoplasia Short femoral neck Small earlobe Abnormality of the hand Abnormal hair pattern Mood swings Short metatarsal Genu varum Disproportionate short-limb short stature Microretrognathia Moderately short stature Coxa vara Panhypopituitarism Distal lower limb amyotrophy Bifid distal phalanx of the thumb Hypoplastic vertebral bodies Pleural effusion Multiple joint dislocation Advanced ossification of carpal bones Striae distensae Restlessness Long upper lip Vertebral clefting Scaphocephaly Flat acetabular roof Flattened epiphysis Open angle glaucoma Broad femoral neck Down-sloping shoulders Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Eosinophilia Delayed puberty Spondyloepiphyseal dysplasia Absent toenail Gait disturbance Macroglossia Tremor Skeletal muscle atrophy High palate Branchial fistula Absent fingernail Memory impairment Hypoplasia of the corpus callosum Ankyloglossia Decreased testicular size Interphalangeal joint contracture of finger Intention tremor Truncus arteriosus Ulnar deviation of finger Thick lower lip vermilion Short foot Small hand Bowel incontinence Aggressive behavior Joint hypermobility Neurological speech impairment Short philtrum Wide mouth Abnormality of the pinna Intellectual disability, moderate Polymicrogyria EEG abnormality Intellectual disability, severe Coarse facial features Mandibular prognathia Gait ataxia Pes cavus Absent speech Behavioral abnormality Hypertonia Broad-based gait Short thumb Partial agenesis of the corpus callosum Humoral immunodeficiency Depressivity Atrial septal defect Sensorineural hearing impairment Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Short digit Cubitus valgus Pulmonary edema Narrow nose Hip contracture Synophrys Long palpebral fissure Cortical dysplasia Cortical gyral simplification Open bite Cachexia Obsessive-compulsive behavior Choanal atresia Language impairment Gynecomastia Aortic aneurysm Pyloric stenosis Aortic regurgitation Oculomotor apraxia Recurrent urinary tract infections Highly arched eyebrow Attention deficit hyperactivity disorder High, narrow palate Acanthosis nigricans Long face Arachnodactyly Relative macrocephaly Facial asymmetry Prominent nasal bridge Joint dislocation IgM deficiency Horseshoe kidney Accelerated skeletal maturation Cerebellar cortical atrophy Bruxism Arachnoid cyst Palpebral edema Impaired pain sensation Hypoplastic toenails Recurrent skin infections Lymphedema Recurrent pyelonephritis Hypohidrosis Dental crowding Long eyelashes Renal dysplasia Dental malocclusion Vesicoureteral reflux Full cheeks Sleep disturbance Hair-pulling Nystagmus Nausea and vomiting Generalized myoclonic seizures Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Ambiguous genitalia Oligohydramnios Amenorrhea Dandy-Walker malformation Wide nose Cataract Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy Posteriorly rotated ears Cerebellar hypoplasia Hydrocephalus Low-set ears Thick eyebrow Hypermetropia Limb-girdle muscular dystrophy Periorbital edema Hypothyroidism Abnormality of the skeletal system Stomatitis Lymphoproliferative disorder Adrenal insufficiency Hypoglycemia Lymphadenitis Episodic fever Telecanthus Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Autoimmunity Scarring Fever Abnormality of the nervous system Malabsorption Autistic behavior Strabismus Hydronephrosis Neonatal hypotonia Umbilical hernia Macrotia Gastroesophageal reflux Feeding difficulties Ptosis Hearing impairment Thin vermilion border Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Leukocytosis Psoriasiform dermatitis Low anterior hairline Pancytopenia Sarcoma Nephroblastoma Rhizomelia Spotty hyperpigmentation Dilatation Respiratory distress Talipes equinovarus Myopia Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hypopigmentation Glaucoma Female infertility Decreased fertility in females Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone IgG deficiency Osteoporosis Proptosis IgA deficiency Abdominal distention Broad thumb Osteoarthritis Depressed nasal ridge Wide intermamillary distance Nail dysplasia Waddling gait Round face Flat face Kyphoscoliosis Micromelia Narrow chest Platyspondyly Joint stiffness Abnormality of the kidney Arthritis Skeletal dysplasia Osteopenia Hodgkin lymphoma Acute myeloid leukemia Bifid scrotum Embryonal rhabdomyosarcoma Polydactyly Diabetes mellitus Syndactyly Abnormality of the dentition Diarrhea Cardiomyopathy Hypodysplasia of the corpus callosum Premature chromatid separation Skin rash Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Protruding ear Finger syndactyly Myeloid leukemia Narrow face Pulmonary fibrosis High pitched voice Squamous cell carcinoma Hand polydactyly Reduced number of teeth Hypopigmented skin patches Azoospermia Cafe-au-lait spot Infertility Bronchiectasis Abnormality of the face Hypertrichosis Specific learning disability Otitis media Abnormality of the skin Decreased antibody level in blood Ichthyosis Abnormality of toe


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