Brachydactyly, and Combined immunodeficiency

Diseases related with Brachydactyly and Combined immunodeficiency

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


Top matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


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

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

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Other less relevant matches:

Low match INFANTILE SYSTEMIC HYALINOSIS


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

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


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

Low 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

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


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

Low match 15Q24 MICRODELETION SYNDROME


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

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Combined immunodeficiency

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Combined immunodeficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Seizures Intrauterine growth retardation Depressed nasal bridge Short neck Macrocephaly Hypertelorism Kyphosis Micrognathia Postnatal growth retardation Microcephaly Edema Downslanted palpebral fissures Inflammatory abnormality of the skin High forehead Clinodactyly Sandal gap Motor delay Toe syndactyly Skeletal dysplasia Coarse facial features Single transverse palmar crease Eosinophilia Inguinal hernia Short nose Hypogonadism Anteverted nares Severe short stature Camptodactyly of finger Short palm Joint laxity Ventriculomegaly Delayed speech and language development Narrow palpebral fissure Obesity Dilatation Epicanthus Severe combined immunodeficiency Hypospadias Failure to thrive Pes planus High palate Recurrent infections

Rare Symptoms - Less than 30% cases


Thrombocytopenia Iris coloboma Vasculitis Growth hormone deficiency Recurrent viral infections Hearing impairment Humoral immunodeficiency Abnormality of the musculature High, narrow palate Cryptorchidism Hypoplasia of penis Recurrent bacterial infections Glaucoma Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Chronic diarrhea Thickened skin Micromelia Anemia Joint stiffness Osteopenia Osteoporosis Subcutaneous nodule Narrow mouth Ventricular septal defect Disproportionate short-limb short stature Irregular vertebral endplates Alopecia Intellectual disability, mild Congenital glaucoma Splenomegaly Long philtrum Clinodactyly of the 5th finger Abnormality of the hand Pneumonia Hepatomegaly Bifid uvula Microretrognathia Hepatosplenomegaly Horseshoe kidney Lymphadenopathy Underdeveloped nasal alae Short metacarpal Short toe Smooth philtrum Autoimmunity Fever Abnormality of the kidney Eczema Abnormality of the skeletal system Neurological speech impairment Small hand Kyphoscoliosis Polymicrogyria Joint hyperflexibility Prominent nose Decreased antibody level in blood Nystagmus Thick lower lip vermilion Wide nasal bridge Coxa valga Anal atresia Platyspondyly Short thumb Feeding difficulties in infancy Abnormality of cardiovascular system morphology Muscular hypotonia of the trunk Gastroesophageal reflux Abnormality of the nervous system Interphalangeal joint contracture of finger Limb undergrowth Recurrent respiratory infections Aggressive behavior Feeding difficulties Pes cavus Hyperactivity Prominent nasal bridge Lymphopenia Lymphoma Micropenis Broad forehead Erythroderma Deeply set eye High anterior hairline Radial deviation of finger Abnormality of the outer ear Nasal speech Abnormality of the voice Microphallus Abnormality of the thorax Overlapping fingers Polyhydramnios Proximal placement of thumb Thick upper lip vermilion Abnormal hair pattern Macrotia Low-set, posteriorly rotated ears Insomnia Hernia Abnormality of digit Slender finger Autism Cupped ear Posteriorly rotated ears Mild short stature Upslanted palpebral fissure Widely spaced teeth Developmental regression Pointed chin Small for gestational age Sleep disturbance Highly arched eyebrow Attention deficit hyperactivity disorder Wide nose Thin vermilion border Mood swings Severe global developmental delay Autistic behavior Hypermetropia Long face Moderately short stature Arachnodactyly Facial asymmetry Strabismus Thick hair Small earlobe Abnormality of earlobe Bilateral single transverse palmar creases Abnormality of the genital system Microphthalmia Narrow face Hoarse voice Sparse and thin eyebrow Cafe-au-lait spot Abnormality of toe Tics Open mouth Tapered finger Fine hair Small nail Protruding ear Congenital diaphragmatic hernia Panhypopituitarism Delayed myelination Abdominal obesity Intestinal atresia B lymphocytopenia Wide nasal base Low posterior hairline Unilateral renal agenesis Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Narrow palate Wormian bones Hemivertebrae Aortic valve stenosis Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Tetralogy of Fallot Hypoplastic left heart Dandy-Walker malformation Renal agenesis Intestinal malrotation Postural instability Oral cleft Pulmonic stenosis Finger syndactyly Abnormal cardiac septum morphology Coloboma Sparse hair Camptodactyly Abnormality of neuronal migration Prominent occiput Hydronephrosis Mitral stenosis Cerebellar malformation Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Hypoplastic fingernail Communicating hydrocephalus Mesomelia Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Double outlet right ventricle Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Atrioventricular canal defect Abnormality of the hip bone Cleft lip Brachycephaly Abnormality of nervous system morphology Abnormality of the proximal phalanx of the thumb Increased body weight Abnormality of the metaphysis Nephrotic syndrome Sepsis Dry skin Hypotrichosis Pruritus Papule Skin rash Hypothyroidism Diarrhea Medial flaring of the eyebrow Scaling skin Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Shock Leukocytosis Prominent forehead Severe B lymphocytopenia Cerebellar hypoplasia Abnormal heart morphology Patent ductus arteriosus Syndactyly Atrial septal defect Hydrocephalus Frontal bossing Optic atrophy Flexion contracture Low-set ears Cleft palate Desquamation of skin soon after birth Aplasia/Hypoplasia of the eyebrow Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections Down-sloping shoulders Metaphyseal chondrodysplasia Cellular immunodeficiency Hypoplasia of the thymus Hypoproteinemia Hashimoto thyroiditis Thyroiditis Distal lower limb amyotrophy Prominent eyelashes Scaphocephaly Steatorrhea Respiratory distress Talipes equinovarus Myopia Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Telangiectasia of the skin Abnormality of dental morphology Midface retrusion Urticaria Increased susceptibility to fractures Polycystic ovaries Skin ulcer Hyperpigmentation of the skin Lymphedema Gingival overgrowth Recurrent fractures Malabsorption Malar flattening Respiratory failure Cervical instability Wide intermamillary distance Genu varum Coxa vara Joint dislocation Rhizomelia Broad thumb Bowing of the long bones Osteoarthritis Depressed nasal ridge Nail dysplasia Proptosis Waddling gait Round face Abdominal distention Renal cyst Short distal phalanx of finger Flat face Narrow chest Hyperlordosis Arthritis Severe platyspondyly Narrow greater sacrosciatic notches Metaphyseal widening Myoclonus Bronchiectasis Sensory impairment Asthma Neutropenia Hemolytic anemia Erythema Respiratory tract infection Conductive hearing impairment Hyporeflexia Recurrent skin infections Dysarthria Cognitive impairment Sensorineural hearing impairment Ataxia Lymphadenitis Periorbital edema Episodic fever Everted lower lip vermilion Scarring Leukopenia Glomerulonephritis Hypoplasia of the capital femoral epiphysis Generalized-onset seizure Delayed ossification of carpal bones Hepatic cysts Dislocated radial head Metaphyseal dysplasia Disproportionate short stature Neurodevelopmental delay Opisthotonus Epiphyseal dysplasia Progressive microcephaly Full cheeks Atopic dermatitis Broad nasal tip Craniosynostosis Pectus excavatum Hyperreflexia Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Short metatarsal Short femoral neck Restlessness Absent speech Blepharophimosis Wide mouth Abnormality of the pinna Intellectual disability, moderate EEG abnormality Mandibular prognathia Gait ataxia Hyperhidrosis Behavioral abnormality Synophrys Gait disturbance Tremor Skeletal muscle atrophy Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Short digit Pulmonary edema Narrow nose Short philtrum Delayed puberty Long palpebral fissure Cachexia Striae distensae Biparietal narrowing Cerebellar vermis atrophy Truncal obesity Cortical gyral simplification Cortical dysplasia Open bite Large hands Cubitus valgus Relative macrocephaly Joint hypermobility Acanthosis nigricans Gynecomastia Broad-based gait Intention tremor Decreased testicular size Memory impairment Macroglossia Short foot Bulbous nose Hip contracture Partial agenesis of the corpus callosum Thoracic hypoplasia Hypoplastic vertebral bodies Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Vertebral clefting Flattened epiphysis Supernumerary metacarpal bones Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Protuberant abdomen Cystic hygroma Phalangeal dislocation Multiple carpal ossification centers Spondyloepiphyseal dysplasia Retinal dystrophy Pleural effusion Tachypnea Finger clinodactyly Recurrent pneumonia Meningitis Sinusitis Recurrent otitis media Cardiomegaly Premature birth Downturned corners of mouth Proximal fibular overgrowth Tachycardia Thin upper lip vermilion Agenesis of corpus callosum Vomiting Fatigue Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Primum atrial septal defect



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