Immunodeficiency, and Syndactyly

Diseases related with Immunodeficiency and Syndactyly

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


Top matches:

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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Other less relevant matches:

Low match FRASER SYNDROME 1; FRASRS1


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Low match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Low match DISTAL 22Q11.2 MICRODELETION 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

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 PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match CAYLER CARDIOFACIAL 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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Syndactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Toe syndactyly

Uncommon Symptoms - Between 30% and 50% cases


Seizures Global developmental delay Cryptorchidism Intrauterine growth retardation Short stature Inguinal hernia Recurrent respiratory infections Clinodactyly of the 5th finger Malar flattening Micropenis Underdeveloped nasal alae Deeply set eye Polydactyly Behavioral abnormality Ventricular septal defect Blepharophimosis High palate Cleft palate Neoplasm Wide nasal bridge Growth delay Facial asymmetry Joint hyperflexibility Generalized hypotonia Epicanthus Short palm High, narrow palate Abnormal facial shape Pointed chin Sandal gap Muscular hypotonia Depressed nasal bridge Abnormality of cardiovascular system morphology Depressivity Patent ductus arteriosus Thin upper lip vermilion Abnormal heart morphology Autism Low-set ears Cupped ear Autistic behavior Delayed speech and language development Pes planus Camptodactyly of finger Attention deficit hyperactivity disorder Prominent nasal bridge Smooth philtrum Arachnodactyly Long face Highly arched eyebrow Tics Abnormality of earlobe Motor delay Narrow mouth Abnormality of the genital system Ventriculomegaly Choanal atresia Vesicoureteral reflux Obesity Hyperactivity Aggressive behavior Interphalangeal joint contracture of finger Abnormality of the pinna Hypospadias Obsessive-compulsive behavior Protruding ear Atrial septal defect Abnormality of the dentition Sensorineural hearing impairment Micrognathia Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Cleft lip Microdontia Tetralogy of Fallot Abnormality of the outer ear Hydronephrosis Myeloid leukemia Hypogonadism Tapered finger Posteriorly rotated ears Cutaneous syndactyly High forehead Sleep disturbance Pes cavus Small for gestational age Short philtrum Hypoplasia of the maxilla EEG abnormality Joint hypermobility Acute myeloid leukemia Carious teeth Hip dislocation Absent speech Hypertonia Gastroesophageal reflux Intellectual disability, severe Growth hormone deficiency Constipation Cellulitis Hypermetropia 2-3 toe syndactyly Thick lower lip vermilion Large hands Abnormality of the urinary system Dental crowding Renal hypoplasia Oligohydramnios Renal agenesis Dental malocclusion Short thumb Wide nose Pulmonary hypoplasia Cleft upper lip Anal atresia Broad-based gait Postnatal growth retardation Gait disturbance Conductive hearing impairment Lymphedema Microphthalmia Strabismus Urethral atresia Long philtrum Hernia Small hand Polymicrogyria Macrotia Bulbous nose Cutaneous finger syndactyly Intellectual disability, moderate Joint laxity Hypoplasia of the corpus callosum Acute leukemia Dolichocephaly Sacral dimple Neurological speech impairment Ankyloglossia Leukemia Truncus arteriosus Ulnar deviation of finger Short distal phalanx of finger Bowel incontinence Hyperlordosis Cerebellar atrophy Language impairment Aortic aneurysm Absent fingernail Premature birth Pyloric stenosis Aortic regurgitation Bowing of the long bones Oculomotor apraxia Fever Coxa valga Heat intolerance Hand polydactyly Recurrent urinary tract infections Absent toenail Prominent nose Macrocephaly Narrow face Hypohidrosis Sparse and thin eyebrow Downslanted palpebral fissures Failure to thrive Cafe-au-lait spot Cognitive impairment Hyperhidrosis Branchial fistula Anemia Sinusitis Diarrhea Short nose Renal dysplasia Pneumonia Brachydactyly Finger syndactyly Nausea and vomiting Scoliosis Abnormality of the face Preauricular pit Spina bifida occulta Hemangioma Congenital contracture Recurrent pyelonephritis Small face Body odor Gynecomastia Narrow palpebral fissure Dermoid cyst Acanthosis nigricans Relative macrocephaly Cachexia Cubitus valgus Open bite Cortical dysplasia Cortical gyral simplification Truncal obesity Intention tremor Preauricular skin tag Congenital hip dislocation Episodic vomiting Hair-pulling Fulminant hepatic failure Short neck Tongue thrusting Hyperorality Kyphosis Cerebellar vermis atrophy Skeletal muscle atrophy Flexion contracture Cerebellar cortical atrophy Toenail dysplasia Gait ataxia Mandibular prognathia Hypoplasia of penis Coarse facial features Facial palsy Periorbital fullness Tremor Wide mouth Synophrys Delayed puberty Short foot Spina bifida Macroglossia Memory impairment Decreased testicular size Abnormality of the musculature Multicystic kidney dysplasia Biparietal narrowing Wide nasal base Long palm Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Short chin Gastrointestinal atresia Accelerated skeletal maturation Increased intracranial pressure Thick hair Intestinal atresia Poor head control Microphallus Recurrent skin infections Recurrent upper respiratory tract infections Prominent supraorbital ridges Overlapping fingers Polycystic kidney dysplasia Conspicuously happy disposition Medial flaring of the eyebrow Hypoplastic toenails Unsteady gait Cerebral visual impairment Tall stature Chronic diarrhea Nephrolithiasis Long eyelashes Hepatitis Full cheeks Renal cyst Thick vermilion border Thick eyebrow Hepatic failure Irritability Abnormality of the proximal phalanx of the thumb Anxiety Neonatal hypotonia Umbilical hernia Agenesis of corpus callosum Hyporeflexia Midface retrusion Headache Vomiting Feeding difficulties Ptosis Pain Thick upper lip vermilion High anterior hairline Striae distensae Abnormality of toe Upslanted palpebral fissure Clinodactyly Dilatation Anteverted nares Impaired pain sensation Palpebral edema Nystagmus Abnormality of the periventricular white matter Arachnoid cyst Bruxism Moderately short stature Muscular hypotonia of the trunk Concave nasal ridge Mood swings Small earlobe Abdominal obesity Panhypopituitarism Abnormal hair pattern Distal lower limb amyotrophy Delayed CNS myelination Down-sloping shoulders Scaphocephaly Restlessness Polyhydramnios Low-set, posteriorly rotated ears Weak cry Microretrognathia Insomnia Poor eye contact Abnormality of digit Slender finger Mild short stature Radial deviation of finger Proximal placement of thumb Abnormality of the thorax Abnormality of the voice Nasal speech Widely spaced teeth Hoarse voice Feeding difficulties in infancy Open mouth Fine hair Small nail Congenital diaphragmatic hernia Delayed myelination Single transverse palmar crease Iris coloboma Thin vermilion border Severe global developmental delay Broad forehead Developmental regression Bilateral single transverse palmar creases Broad nasal tip Slow-growing scalp hair Abnormality of chromosome stability Encephalopathy Myopathy Dysphagia Myopia Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Prominent forehead Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone IgG deficiency Hodgkin lymphoma IgA deficiency Telangiectasia of the skin Pulmonary fibrosis High pitched voice Arrhythmia Hypothyroidism Reduced number of teeth Abnormality of dental enamel Protruding tongue Bronchitis Mixed hearing impairment Prolonged QT interval Multiple joint contractures Ventricular fibrillation Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Hypocalcemia Hypoglycemia Cardiac arrest Bradycardia Hypoplasia of dental enamel Pulmonary arterial hypertension Cardiomegaly Esotropia Round face Syncope Sudden cardiac death Coma Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Squamous cell carcinoma Hypopigmented skin patches Hypothermia Cirrhosis Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Hypotelorism Webbed neck Migraine Hematuria Hemolytic anemia Bruising susceptibility Lymphadenopathy Leukocytosis Vertigo Scarring Pallor Weight loss Respiratory failure Visual loss Thrombocytopenia Splenomegaly Edema Respiratory insufficiency Fatigue Hepatomegaly Chronic otitis media Prolonged bleeding time Azoospermia Infertility Telangiectasia Bronchiectasis Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Otitis media Abnormality of the skin Decreased antibody level in blood Lymphoma Ichthyosis Skin rash Hypercoagulability Erythema Diabetes mellitus Severe short stature Delayed skeletal maturation Cardiomyopathy Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Amelogenesis imperfecta Perimembranous ventricular septal defect Absence of Stensen duct Omphalocele Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Hypogonadotrophic hypogonadism Thin skin Hypoplastic nipples Split hand Sparse scalp hair Nail dysplasia Ectodermal dysplasia Hypodontia Oral cleft Abnormality of the foot Microtia Telecanthus Photophobia Hyperkeratosis Alopecia Ectrodactyly Xerostomia Aplasia/Hypoplasia of the sternum Bladder diverticulum Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Recurrent corneal erosions Blepharitis Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Abnormality of the umbilicus Malformed lacrimal duct Torsade de pointes Encephalocele Absent eyelashes Foot polydactyly Anal stenosis Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Absent eyebrow Anophthalmia Clitoral hypertrophy Atresia of the external auditory canal Renal hypoplasia/aplasia Ambiguous genitalia Myelomeningocele Wide intermamillary distance Postaxial polydactyly Corneal opacity Blindness Hydrocephalus Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Postaxial foot polydactyly Choanal stenosis Extension of hair growth on temples to lateral eyebrow Cleft ala nasi Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Difficulty in tongue movements Calvarial skull defect Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Abnormal cortical gyration Asymmetric crying face



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