Immunodeficiency, and Thick lower lip vermilion

Diseases related with Immunodeficiency and Thick lower lip vermilion

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

Top matches:

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

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

Other less relevant 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

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

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

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Thick lower lip vermilion

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Microcephaly Abnormal facial shape Recurrent infections Motor delay Epicanthus Ventriculomegaly Short stature Growth delay Muscular hypotonia Long philtrum Delayed speech and language development Scoliosis Wide nasal bridge Everted lower lip vermilion Deeply set eye Abnormality of the dentition Pneumonia Autism Intellectual disability, severe Short chin Thick vermilion border Micrognathia Respiratory tract infection Recurrent respiratory infections Feeding difficulties Low-set ears Brachydactyly Pointed chin Hypertonia High, narrow palate Obesity Hypospadias Inguinal hernia Hyperactivity High forehead EEG abnormality Aggressive behavior Intellectual disability, moderate Bulbous nose Sleep disturbance Hearing impairment Anteverted nares Short nose Polymicrogyria Combined immunodeficiency Facial asymmetry Wide nose Coarse facial features Strabismus

Rare Symptoms - Less than 30% cases

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


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