Immunodeficiency, and Postnatal growth retardation

Diseases related with Immunodeficiency and Postnatal growth retardation

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

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

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

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Other less relevant matches:

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

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

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

Medium 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

Medium match ROIFMAN SYNDROME

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Postnatal growth retardation

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Intrauterine growth retardation 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

Other less frequent symptoms

Patients with Immunodeficiency and Postnatal growth retardation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Anemia Abnormal facial shape Generalized hypotonia Diarrhea High forehead Recurrent infections Small for gestational age Micrognathia Clinodactyly Ventriculomegaly Anteverted nares Lymphadenopathy Respiratory failure Short nose Malar flattening Recurrent respiratory infections Severe intrauterine growth retardation Low-set ears Delayed skeletal maturation Seizures Long philtrum Neoplasm Cryptorchidism Macrocephaly Depressed nasal bridge Failure to thrive Severe short stature

Rare Symptoms - Less than 30% cases

Midface retrusion Pulmonary fibrosis Agenesis of corpus callosum Leukemia Micropenis Nail dysplasia Decreased antibody level in blood Renal cyst Thin upper lip vermilion Edema Hypogonadism Short neck Narrow mouth Posteriorly rotated ears Short foot Epicanthus Muscular hypotonia Irregular vertebral endplates Abnormality of the dentition Brachydactyly Short metacarpal Cerebellar hypoplasia Chromosome breakage Clinodactyly of the 5th finger Eczema Sinusitis Glaucoma Hepatomegaly Intellectual disability, mild Bronchiectasis Lymphopenia Acute leukemia Ichthyosis Pneumonia Splenomegaly Frontal bossing Myelodysplasia Downslanted palpebral fissures Dilatation Kyphosis Osteoporosis Respiratory distress Talipes equinovarus Myopia Proptosis Kyphoscoliosis Osteopenia Obesity High pitched voice Skeletal dysplasia Pes planus Arthritis Joint laxity Type II diabetes mellitus Hyperlordosis Joint stiffness Specific learning disability Platyspondyly Narrow chest Smooth philtrum Otitis media Abnormality of the skin Prominent nose Lymphoma Abnormality of the kidney Agenesis of maxillary lateral incisor Motor delay Hypoplastic pelvis IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hand polydactyly Flat face Hypoplasia of the zygomatic bone Hypopigmented skin patches Squamous cell carcinoma IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Reduced number of teeth Abnormality of chromosome stability Cutaneous photosensitivity Telangiectasia Scoliosis Facial telangiectasia in butterfly midface distribution Telangiectasia of the skin Hypertrichosis Abnormality of the face Neoplasm of the gastrointestinal tract Cafe-au-lait spot Decreased fertility in females Spotty hyperpigmentation Narrow face Azoospermia Sacral dimple Spotty hypopigmentation Female infertility Micromelia Disproportionate short-limb short stature Short distal phalanx of finger Vomiting Underdeveloped nasal alae Premature birth Single transverse palmar crease Retinal dystrophy Downturned corners of mouth Tachycardia Hepatosplenomegaly Ventricular septal defect Recurrent otitis media Fatigue Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Cardiomegaly Short toe Partial duplication of the distal phalanx of the hallux Hip contracture Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Long palpebral fissure Meningitis Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Recurrent pneumonia Phalangeal dislocation Advanced tarsal ossification Abdominal distention Coxa valga Short metatarsal Genu varum Dolichocephaly Sandal gap Microretrognathia Coxa vara Joint dislocation Horseshoe kidney Metaphyseal widening Rhizomelia Broad thumb Bowing of the long bones Osteoarthritis Depressed nasal ridge Wide intermamillary distance Waddling gait Round face Abnormality of the hand Short femoral neck Bifid distal phalanx of the thumb Open angle glaucoma Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Broad femoral neck Thoracic hypoplasia Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Protuberant abdomen Cystic hygroma Congenital glaucoma Infertility Amenorrhea Finger syndactyly Renal insufficiency Hypotelorism Hepatitis Hip dysplasia Arthrogryposis multiplex congenita Prominent nasal bridge Inguinal hernia Feeding difficulties Large fontanelles Flexion contracture Ptosis Sensorineural hearing impairment Hearing impairment Esophageal stenosis Esophageal stricture Oral leukoplakia Cholestasis Chronic diarrhea Leukopenia Recurrent hypoglycemia Abnormal CNS myelination Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Breech presentation Arnold-Chiari malformation Diastasis recti Severe postnatal growth retardation Shallow orbits Steatorrhea Hyperglycemia Portal hypertension Adducted thumb Colitis Bone marrow hypocellularity Abnormality of globe location Hypoglycemia Hypothyroidism Blindness Stomatitis Lymphoproliferative disorder Recurrent viral infections Adrenal insufficiency Broad eyebrow Dry skin Dermal translucency Periorbital fullness Speech apraxia Pointed chin Apraxia Developmental regression Autism Respiratory tract infection Hemolytic anemia Abnormality of skin pigmentation Protein-losing enteropathy Carious teeth Nail dystrophy Depressivity Thrombocytopenia Cerebellar atrophy Erythroid dysplasia Folliculitis Osteosarcoma Neutropenia Atopic dermatitis Autoimmune hemolytic anemia Erythroderma Recurrent skin infections Abnormal intestine morphology Abnormal lung morphology Inflammatory abnormality of the skin Neonatal asphyxia Increased urinary sedoheptulose Skin rash Oligohydramnios Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Ambiguous genitalia Dandy-Walker malformation Bifid scrotum Generalized myoclonic seizures Wide nose Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Feeding difficulties in infancy Brachycephaly Nephroblastoma Combined immunodeficiency Hypospadias Hypodysplasia of the corpus callosum Erythema Protruding ear Polydactyly Diabetes mellitus Hyperhidrosis Syndactyly Cardiomyopathy Embryonal rhabdomyosarcoma Acute lymphoblastic leukemia Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Upslanted palpebral fissure Hydrocephalus Hypoplasia of the corpus callosum Thin vermilion border Convex nasal ridge Growth hormone deficiency Delayed myelination Bifid uvula Small hand Short palm Astigmatism Hypocalcemia Corneal opacity Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Deeply set eye Prominent forehead Microphthalmia Myopathy Hypoplasia of penis Recurrent bacterial infections Wide nasal bridge Cellular immunodeficiency Cataract Cleft palate Nystagmus Hypertelorism Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Aplasia/Hypoplasia affecting the eye Abnormality of dental enamel Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism External ear malformation Spinal canal stenosis Intestinal obstruction Biconvex vertebral bodies


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