Immunodeficiency, and Smooth philtrum

Diseases related with Immunodeficiency and Smooth philtrum

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

Top matches:

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

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Other less relevant matches:

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

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

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 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

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

High match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Attention deficit hyperactivity disorder Highly arched eyebrow Recurrent respiratory infections Pointed chin Hernia Strabismus Deeply set eye Growth delay Long philtrum Wide nasal bridge Hypertelorism Thin upper lip vermilion Posteriorly rotated ears Motor delay Atrial septal defect Muscular hypotonia Anteverted nares Intellectual disability, mild Epicanthus Sandal gap Behavioral abnormality Narrow mouth Ventriculomegaly Clinodactyly Malar flattening Short nose Pes planus Sensorineural hearing impairment Nystagmus Long face Cleft palate Ventricular septal defect Cryptorchidism High forehead Pyloric stenosis Underdeveloped nasal alae Prominent nasal bridge Micrognathia Toe syndactyly Facial asymmetry Aortic regurgitation Hypospadias Depressed nasal bridge Flexion contracture Brachydactyly Patent ductus arteriosus Macrocephaly Ptosis Blepharophimosis Language impairment Short neck Tapered finger Coxa valga Bowing of the long bones Premature birth Joint hyperflexibility Dilatation Midface retrusion Clinodactyly of the 5th finger High, narrow palate Microretrognathia Short palm Microphthalmia Arachnodactyly Hyperlordosis Postnatal growth retardation Short distal phalanx of finger Obesity Downslanted palpebral fissures Retrognathia Delayed speech and language development Macrotia Upslanted palpebral fissure Autism Abnormality of cardiovascular system morphology Feeding difficulties Thrombocytopenia Abnormal cardiac septum morphology Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Cupped ear Prominent forehead Hydronephrosis Spina bifida Splenomegaly Hepatomegaly Cerebellar atrophy Neoplasm Iris coloboma Camptodactyly Cerebral atrophy Wide mouth Hip dislocation Pneumonia Abnormal heart morphology Failure to thrive Webbed neck Renal agenesis Small for gestational age Widely spaced teeth Hand polydactyly Unilateral renal agenesis Toe clinodactyly Depressivity Narrow forehead Camptodactyly of finger Ulnar deviation of finger Optic atrophy Abnormality of the dentition Kyphosis Hypoplasia of the corpus callosum Branchial fistula Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Truncus arteriosus Bowel incontinence Tented upper lip vermilion Obsessive-compulsive behavior Feeding difficulties in infancy Aortic aneurysm Intellectual disability, moderate Oculomotor apraxia Recurrent urinary tract infections Choanal atresia Short philtrum Bulbous nose Hypogonadism Horseshoe kidney Hepatosplenomegaly Proximal placement of thumb Neutropenia Growth hormone deficiency Osteoporosis Flat face Autistic behavior Ocular albinism Narrow chest Missing ribs Slender finger Muscular hypotonia of the trunk Albinism Renal cyst Joint laxity Congestive heart failure Retinal dysplasia Interphalangeal joint contracture of finger Osteopenia Hyperactivity Polydactyly Delayed myelination Single transverse palmar crease Coloboma Flared nostrils Broad forehead EEG abnormality Short toe Congenital diaphragmatic hernia Small hand Talipes Micropenis Myopia Talipes equinovarus Reduced visual acuity Short thumb Open mouth Abnormality of the genital system Hypermetropia Thick lower lip vermilion Sparse and thin eyebrow Fine hair Abnormality of the thorax Narrow face Abnormality of the voice Hoarse voice Nasal speech Thin vermilion border Abnormality of the outer ear Cafe-au-lait spot Abnormality of nervous system morphology Radial deviation of finger Thick upper lip vermilion Unilateral cryptorchidism Thick nasal alae Wide nasal base Deep plantar creases Thick hair Intestinal atresia Microphallus Anisocoria Dysplastic corpus callosum Overlapping fingers Large fleshy ears Long palm Conspicuously happy disposition Gastrointestinal atresia Polymicrogyria Medial flaring of the eyebrow Abnormality of the proximal phalanx of the thumb High anterior hairline Facial palsy Insomnia Vesicoureteral reflux Tetralogy of Fallot Abnormality of digit Renal hypoplasia Preauricular skin tag Mild short stature Sleep disturbance Wide nose Small nail Bilateral single transverse palmar creases Tachycardia Congenital hip dislocation Partial agenesis of the corpus callosum Eyelid coloboma Chronic constipation Diastasis recti Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Atrioventricular canal defect Ectopic anus Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Schizophrenia Duodenal atresia Mitral stenosis Tachypnea Clitoral hypoplasia Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Giant platelets Macular hypoplasia Central hypothyroidism Broad hallux phalanx U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Infantile muscular hypotonia Abnormal palate morphology Spina bifida occulta Hydrocephalus Skin rash Craniosynostosis Telecanthus Hypoglycemia Hypothyroidism Agenesis of corpus callosum Constipation Pectus excavatum Syndactyly Frontal bossing Leukemia Spasticity Cataract Asymmetric crying face Dermoid cyst Body odor Small face Preauricular pit Congenital contracture Hemangioma Finger syndactyly Neurological speech impairment Azoospermia Pancytopenia Holoprosencephaly Multicystic kidney dysplasia Bone marrow hypocellularity Aortic valve stenosis Leukodystrophy Sinusitis Amblyopia Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Dolichocephaly Eczema Dehydration Microdontia Otitis media Decreased antibody level in blood Intestinal malrotation Postural instability Microcornea Bruising susceptibility Anal atresia Severe global developmental delay Synophrys Protruding ear Round face Broad thumb Osteoarthritis Depressed nasal ridge Wide intermamillary distance Nail dysplasia Waddling gait Short metacarpal Abdominal distention Joint dislocation Micromelia Platyspondyly Joint stiffness Abnormality of the kidney Arthritis Skeletal dysplasia Kyphoscoliosis Rhizomelia Coxa vara Respiratory failure Protuberant abdomen Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Irregular vertebral endplates Cystic hygroma Disproportionate short-limb short stature Congenital glaucoma Thoracic hypoplasia Short femoral neck Metaphyseal widening Abnormality of the hand Short metatarsal Genu varum Proptosis Glaucoma Flattened epiphysis Dystonia Arachnoid cyst Interstitial pulmonary abnormality Hypotelorism Abnormal bleeding Generalized myoclonic seizures Generalized tonic-clonic seizures Abnormality of the nervous system Everted upper lip vermilion Visual impairment Biparietal narrowing Acne Laryngomalacia Convex nasal ridge Everted lower lip vermilion Oral cleft Cleft lip Pierre-Robin sequence Coarse facial features Severe short stature Acetabular dysplasia Edema Respiratory distress Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Granulocytopenia Interstitial pneumonitis Fair hair Photophobia Periodontitis Pulmonary fibrosis Recurrent bacterial infections Hip dysplasia Carious teeth Respiratory tract infection Conductive hearing impairment Open angle glaucoma Hypoplastic vertebral bodies Developmental regression Hypertension Bilateral ptosis Narrow palpebral fissure Hemivertebrae Psychosis Abnormality of the pinna Gastroesophageal reflux Respiratory insufficiency Cognitive impairment Combined immunodeficiency Eversion of lateral third of lower eyelids Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Anophthalmia Long nose Congenital nystagmus Widely-spaced maxillary central incisors Aggressive behavior Polyhydramnios Pes cavus Hypertonia Intellectual disability, severe High palate Absent nasal bridge Chorioretinitis Syringomyelia Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Mild microcephaly Abnormality of the periventricular white matter Vertebral clefting Supernumerary metacarpal bones Ataxia Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Phalangeal dislocation Absent speech 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 Abnormality of the skeletal system Cerebellar hypoplasia Abnormality of the sternum Exotropia Pericardial effusion Overlapping toe Sparse eyebrow Hypoalbuminemia Abnormal intestine morphology Progressive microcephaly Lymphedema Bilateral sensorineural hearing impairment Cerebral cortical atrophy Dandy-Walker malformation Dental malocclusion Nevus Ascites Retinal detachment Downturned corners of mouth Pulmonic stenosis Abnormality of the curvature of the vertebral column


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