Immunodeficiency, and Thick vermilion border

Diseases related with Immunodeficiency and Thick vermilion border

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

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

Other less relevant matches:

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

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

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

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

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Thick vermilion border

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Thick vermilion border. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Abnormal facial shape Epicanthus Pneumonia Seizures Long philtrum Muscular hypotonia Obesity Motor delay Short nose Ventriculomegaly Generalized hypotonia Microcephaly Short stature EEG abnormality Hypospadias Anteverted nares Hearing impairment Recurrent respiratory infections Hypertonia Wide nose Intellectual disability, severe Facial asymmetry Coarse facial features Deeply set eye Aggressive behavior Hyperactivity Combined immunodeficiency Scoliosis Strabismus Abnormality of the dentition Wide nasal bridge Decreased antibody level in blood Polymicrogyria Thick lower lip vermilion Sleep disturbance Feeding difficulties Frontal bossing Inflammatory abnormality of the skin Delayed speech and language development Brachydactyly Autistic behavior Fever Recurrent bacterial infections Micrognathia Everted lower lip vermilion Short chin Macrocephaly Recurrent viral infections Respiratory tract infection Autism High, narrow palate

Rare Symptoms - Less than 30% cases

Cryptorchidism Micropenis Pes cavus Hypogonadism Clinodactyly of the 5th finger Inguinal hernia Intrauterine growth retardation Absent speech Behavioral abnormality Downslanted palpebral fissures Hypoplasia of the corpus callosum Gait disturbance High forehead Lymphopenia Pes planus Delayed myelination Feeding difficulties in infancy Postnatal growth retardation Protruding ear Attention deficit hyperactivity disorder Broad forehead Hypermetropia Open mouth Macrotia Abnormality of the genital system Pointed chin Abnormality of the outer ear Ptosis Midface retrusion Agenesis of corpus callosum Low-set ears Muscular hypotonia of the trunk Clinodactyly Joint laxity Small hand Abnormality of the pinna Camptodactyly of finger Toe syndactyly Joint hyperflexibility Bulbous nose Recurrent fungal infections Short palm Interphalangeal joint contracture of finger Dilatation Broad-based gait Short thumb Sandal gap Large hands Biparietal narrowing Nystagmus Intellectual disability, mild Intellectual disability, moderate Severe global developmental delay Constipation Respiratory distress Underdeveloped nasal alae Osteoporosis Mandibular prognathia Eczema Joint hypermobility Prominent nose Hypohidrosis Sparse and thin eyebrow Hoarse voice Recurrent skin infections Bronchitis Prominent supraorbital ridges Chronic mucocutaneous candidiasis Heat intolerance Hyperhidrosis Prominent forehead Respiratory failure Recurrent pyelonephritis Cataract Cleft palate Muscle weakness Sensorineural hearing impairment Neutropenia Failure to thrive Hypopigmentation of the skin Spasticity Hair-pulling Fulminant hepatic failure Tongue thrusting Triangular face Hyperorality Sepsis Cerebellar cortical atrophy Pulmonary hypoplasia Sparse hair Cerebral cortical atrophy Joint stiffness Rod-cone dystrophy Acidosis Cerebellar hypoplasia Hypertrophic cardiomyopathy Cleft lip Congestive heart failure Cerebellar atrophy Myopathy Peripheral neuropathy Cardiomyopathy Episodic vomiting Dilated cardiomyopathy Optic atrophy Congenital cataract Cleft upper lip Hyperreflexia Toenail dysplasia Decrease in T cell count Periorbital fullness Unsteady gait Long eyelashes Renal dysplasia Hepatitis Dental malocclusion Vesicoureteral reflux Full cheeks Renal cyst Thick eyebrow Hepatic failure Nausea and vomiting Chronic diarrhea Dolichocephaly Irritability Anxiety Hydronephrosis Neonatal hypotonia Umbilical hernia Gastroesophageal reflux Hypotrichosis Hyporeflexia Patent ductus arteriosus Nephrolithiasis Tall stature Delayed CNS myelination Cellulitis Concave nasal ridge Hypotelorism Bruxism Arachnoid cyst Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Poor eye contact Weak cry 2-3 toe syndactyly Dental crowding Hypoplastic toenails Polycystic kidney dysplasia Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Sacral dimple Accelerated skeletal maturation Multicystic kidney dysplasia Cerebral visual impairment Lymphedema Narrow forehead Decreased body weight Ventricular hypertrophy White matter neuronal heterotopia Abnormality of the gastrointestinal tract Esophagitis Gingivitis Clubbing Recurrent pneumonia Meningitis Bronchiectasis Delayed skeletal maturation Acute bronchitis Severe T-cell immunodeficiency Gastritis Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Recurrent aphthous stomatitis Cheilitis Muscle flaccidity Retrognathia Increased head circumference Severe combined immunodeficiency Pancytopenia Lymphadenopathy Hepatosplenomegaly Neoplasm Chronic bronchitis Agammaglobulinemia Round face Lymphadenitis Mastoiditis Periorbital edema Episodic fever Vasculitis Subcutaneous nodule Bifid uvula Autoimmunity Scarring Thrombocytopenia Edema Abnormal macular morphology Abnormality of the cerebellar vermis Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Neurodevelopmental delay Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Leukopenia Optic neuropathy Increased body weight Aspiration Progressive microcephaly Decreased liver function Abnormality of retinal pigmentation Headache Left ventricular hypertrophy Heterotopia Progressive neurologic deterioration Abnormality of immune system physiology Hypopigmentation of hair Abnormality of the thymus Hypoplasia of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Hypopigmentation of the fundus Cellular immunodeficiency Hypertension Severe sensorineural hearing impairment Abnormal cortical gyration Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Dry skin Pain Malar flattening Abnormal oral mucosa morphology Decreased testicular size Memory impairment Macroglossia Short foot Concave nail Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Delayed puberty Anterior hypopituitarism Everted upper lip vermilion Synophrys Neurological speech impairment Short philtrum Periorbital wrinkles Blepharophimosis Wide mouth Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplasia of penis Intention tremor Dysphagia Cortical gyral simplification Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Restlessness Striae distensae Soft skin Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical dysplasia Conical tooth Open bite Taurodontia Cubitus valgus Cachexia Relative macrocephaly Acanthosis nigricans Anodontia Narrow palpebral fissure Gynecomastia Hypoplastic-absent sebaceous glands Abnormality of the skeletal system Tics Opportunistic infection Hemihypertrophy Verrucae Recurrent sinopulmonary infections Increased IgE level Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Recurrent candida infections Atopic dermatitis Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Red hair Fractures of the long bones B lymphocytopenia Recurrent bronchitis Recurrent sinusitis Gait ataxia Lymphoma Osteopenia Erythema Craniosynostosis Skin rash Cough Pruritus Recurrent fractures Kyphosis Asthma Short neck Squamous cell carcinoma Otitis media Sinusitis Tremor Skin ulcer Hemivertebrae Skeletal muscle atrophy Eosinophilia Urticaria Chronic otitis media Abnormal hair pattern Panhypopituitarism Diarrhea Cupped ear Overlapping fingers Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Slender finger Mild short stature Radial deviation of finger Proximal placement of thumb Intestinal atresia Abnormality of the thorax Abnormality of the voice Nasal speech Delayed eruption of teeth Widely spaced teeth Microretrognathia Hypoplasia of the maxilla Bilateral single transverse palmar creases Narrow face Microphallus Thick hair Hypodontia Conspicuously happy disposition Vomiting Atrial septal defect Ventricular septal defect Cognitive impairment Short distal phalanx of finger Persistence of primary teeth Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Long palm Wide nasal base Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Cafe-au-lait spot Ectodermal dysplasia Abdominal obesity Aplasia/Hypoplasia of the eyebrow Narrow mouth Upslanted palpebral fissure Posteriorly rotated ears Absent eyebrow Hernia Abnormality of cardiovascular system morphology Anhidrosis Microphthalmia Agenesis of permanent teeth Polyhydramnios Sparse body hair Hypoplastic nipples Rhinitis Absent eyelashes Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Brittle hair Dysphonia Fine hair Long face Small nail Congenital diaphragmatic hernia Growth hormone deficiency Tapered finger Single transverse palmar crease Microdontia Highly arched eyebrow Iris coloboma Thin vermilion border Arachnodactyly Low-set, posteriorly rotated ears Smooth philtrum Sparse scalp hair Depressed nasal ridge Small for gestational age Thin skin Prominent nasal bridge Type I diabetes mellitus Developmental regression Sparse eyelashes Postnatal macrocephaly


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