Immunodeficiency, and Macrocephaly

Diseases related with Immunodeficiency and Macrocephaly

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

Top matches:

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

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

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

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

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

Medium 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

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

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Immunodeficiency and Macrocephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Frontal bossing Abnormal facial shape Seizures Epicanthus High forehead Short nose Proptosis Autistic behavior Lymphedema Feeding difficulties Hypertelorism Autism Micrognathia Pneumonia Hearing impairment Generalized hypotonia Obesity Anemia Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Short distal phalanx of finger Muscular hypotonia Lymphopenia Brachydactyly Strabismus Short neck Severe short stature Osteoporosis Failure to thrive Osteoarthritis Osteopenia Low-set ears Ptosis Narrow mouth Neurodegeneration Flat face Umbilical hernia Diarrhea Anteverted nares Joint dislocation Joint stiffness Steatorrhea Increased susceptibility to fractures Decreased antibody level in blood Chronic diarrhea Recurrent fractures Micromelia Malabsorption Pancytopenia Combined immunodeficiency Pointed chin Ventriculomegaly Edema Scoliosis Dilatation Bone pain Cryptorchidism Delayed speech and language development Broad forehead Postnatal growth retardation Motor delay Arthritis Hepatosplenomegaly Recurrent respiratory infections Midface retrusion Genu varum Microretrognathia Sandal gap Disproportionate short-limb short stature Talipes equinovarus Intrauterine growth retardation Myopia Recurrent pyelonephritis Flat acetabular roof Bruxism Cerebellar cortical atrophy Short metatarsal Hair-pulling Irregular vertebral endplates Protuberant abdomen Cystic hygroma Congenital glaucoma Abnormality of the hand Metaphyseal widening Short femoral neck Thoracic hypoplasia Coxa vara Smooth philtrum Coxa valga Glaucoma Short 1st metacarpal Platyspondyly Hyperlordosis Renal cyst Abdominal distention Abnormality of the kidney Joint laxity Pes planus Skeletal dysplasia Kyphoscoliosis Respiratory failure Round face Respiratory distress Short metacarpal Clinodactyly Waddling gait Nail dysplasia Wide intermamillary distance Kyphosis Depressed nasal ridge Bowing of the long bones Broad thumb Narrow chest Rhizomelia Horseshoe kidney Generalized joint laxity Nystagmus Generalized osteoporosis Osteomyelitis Carious teeth Genu valgum Ectodermal dysplasia Abnormality of the metaphysis Recurrent urinary tract infections Abnormality of epiphysis morphology Increased bone mineral density Bone marrow hypocellularity Hypocalcemia Cranial nerve paralysis Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Hyperostosis Rhinitis Facial palsy Aseptic necrosis Osteopetrosis Abnormal cranial nerve morphology Facial paralysis Generalized osteosclerosis Extramedullary hematopoiesis Fractures of the long bones Hip osteoarthritis Cranial hyperostosis Lumbar scoliosis Abnormal leukocyte morphology Elevated serum acid phosphatase Tooth abscess Mandibular osteomyelitis Paralysis Mandibular prognathia Coronal cleft vertebrae Supernumerary metacarpal bones Broad femoral neck Open angle glaucoma Flattened epiphysis Hypoplastic vertebral bodies Vertebral clefting Long upper lip Advanced ossification of carpal bones Multiple joint dislocation Large joint dislocations Bifid distal phalanx of the thumb Advanced tarsal ossification Partial duplication of the distal phalanx of the hallux Phalangeal dislocation Multiple carpal ossification centers Visual loss Proximal fibular overgrowth Broad first metatarsal Radioulnar dislocation Medial deviation of the foot Splayed fingers Palpebral edema Muscle weakness Visual impairment Optic atrophy Abnormality of the skeletal system Hydrocephalus Blindness Abnormality of the dentition Thrombocytopenia Arachnoid cyst Abnormal CNS myelination Impaired pain sensation Abnormality of the gastrointestinal tract Subcutaneous nodule Thickened skin Gingival overgrowth Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Urticaria Abnormality of dental morphology Telangiectasia of the skin Abnormality of the musculature Osteomalacia Abnormality of the adrenal glands Camptodactyly of finger Aplasia/Hypoplasia of the thymus Hypospadias Respiratory tract infection Macroglossia Sepsis Otitis media Bronchiectasis Sinusitis Recurrent pneumonia Malnutrition Bronchitis Protruding tongue Shawl scrotum Short palm Coarse facial features Communicating hydrocephalus Absent speech Pain Autoimmunity Telangiectasia Meningitis Relative macrocephaly Telangiectases of the cheeks Downslanted palpebral fissures Developmental regression Apraxia Speech apraxia Periorbital fullness Dermal translucency Broad eyebrow Posteriorly rotated ears Postnatal macrocephaly Microtia Abnormality of the foot Facial asymmetry Febrile seizures Tall stature Neoplasm Fever Long philtrum Attention deficit hyperactivity disorder Lymphadenopathy Biparietal narrowing Severe combined immunodeficiency Increased head circumference Agammaglobulinemia Chronic bronchitis Hypoplastic toenails Nausea and vomiting Abnormality of globe location Increased urinary sedoheptulose Wide nasal bridge Clinodactyly of the 5th finger Agenesis of corpus callosum Hyperactivity Gastroesophageal reflux Macrotia Deeply set eye Neonatal hypotonia Hydronephrosis Dolichocephaly Hypermetropia Bulbous nose Postprandial hyperglycemia Thick eyebrow Sleep disturbance Full cheeks Vesicoureteral reflux Dental malocclusion Renal dysplasia Long eyelashes Dental crowding Hypohidrosis Accelerated skeletal maturation Sacral dimple Recurrent skin infections Large hands Neonatal asphyxia Hypochromic anemia Cellular immunodeficiency Hypotelorism Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Impaired T cell function Sensorineural hearing impairment Flexion contracture Renal insufficiency Inguinal hernia Prominent nasal bridge Arthrogryposis multiplex congenita Short foot Hip dysplasia Hepatitis Cholestasis Subcortical cerebral atrophy Large fontanelles Arnold-Chiari malformation Adducted thumb Portal hypertension Hyperglycemia Shallow orbits Severe postnatal growth retardation Diastasis recti Breech presentation Recurrent hypoglycemia Cholestatic liver disease Hypochromic microcytic anemia Abnormality of the renal tubule Abnormality of the vertebral endplates


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