Immunodeficiency, and Hypotelorism

Diseases related with Immunodeficiency and Hypotelorism

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


Top matches:

High match HERMANSKY-PUDLAK SYNDROME 10; HPS10


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

High 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

High match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

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Other less relevant matches:

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

High 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

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4


Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Medium match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5


Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Hypotelorism

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent respiratory infections Epicanthus Sensorineural hearing impairment Anemia Hypertelorism Hearing impairment Motor delay Ventriculomegaly Low-set ears Depressed nasal bridge Seizures Generalized hypotonia Short stature Peripheral neuropathy Leukopenia Respiratory tract infection Microcephaly Nystagmus Feeding difficulties Hepatomegaly Decreased antibody level in blood Pneumonia

Rare Symptoms - Less than 30% cases


Short chin Adducted thumb Chronic diarrhea Hepatitis Prominent nasal bridge Diarrhea High forehead Inguinal hernia Agammaglobulinemia Macrocephaly Ptosis Granulocytopenia Hypochromic microcytic anemia Cataract Triangular face Bone marrow hypocellularity Sensory neuropathy Dilated cardiomyopathy Failure to thrive Small for gestational age Sparse hair Postnatal growth retardation Long philtrum Cryptorchidism High palate Cardiomyopathy Anteverted nares Intrauterine growth retardation Wide nose Delayed speech and language development Deeply set eye Lymphopenia EEG abnormality Cirrhosis Ocular albinism Neoplasm Albinism Cerebellar atrophy Delayed myelination Thrombocytopenia Neutropenia Splenomegaly Respiratory failure Muscular hypotonia of the trunk Retrognathia Cerebellar hypoplasia Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Congenital sensorineural hearing impairment Combined immunodeficiency Optic neuropathy Poor suck Hypertonia Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Recurrent bacterial infections Abnormality of immune system physiology Myopathy Congestive heart failure Renal tubular dysfunction Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Optic atrophy Fair hair Depressed nasal tip Aspiration Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Respiratory distress Increased body weight Decreased liver function Progressive microcephaly Macrotia Polymicrogyria Cleft upper lip Hypospadias Congenital cataract Severe global developmental delay Joint stiffness Feeding difficulties in infancy Cerebral atrophy Cleft lip Hypertrophic cardiomyopathy Coarse facial features Acidosis Cerebral cortical atrophy Rod-cone dystrophy Pulmonary hypoplasia Thick vermilion border Agenesis of corpus callosum Progressive neurologic deterioration Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Heterotopia Cellular immunodeficiency Open mouth Cerebellar vermis hypoplasia High, narrow palate Ventricular hypertrophy Narrow forehead Dilatation Sepsis Hypopigmentation of the skin Sleep disturbance Hypoplasia of the thymus Pancytopenia Hypopigmentation of the fundus Prematurely aged appearance Pain insensitivity Poor wound healing Self-mutilation Premature loss of teeth Episodic fever Impaired pain sensation Osteomyelitis Impaired temperature sensation Anhidrosis Keratitis Hypohidrosis Hyperhidrosis Malar flattening Intellectual disability, mild Abnormality of the dentition Abnormality of the gingiva Painless fractures due to injury Decreased serum iron Abnormality of the foot Round face Everted lower lip vermilion Short nose Tall stature Febrile seizures Facial asymmetry Microtia Acral ulceration Autistic behavior Proptosis Autism Posteriorly rotated ears Absent speech Frontal bossing Decreased number of small peripheral myelinated nerve fibers Pain Uncombable hair Recurrent fungal infections Muscle flaccidity Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Abnormality of the cerebellar vermis Ureteral atresia Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Hyperreflexia Abnormal posturing Aplasia/Hypoplasia of the macula Immunoglobulin IgG2 deficiency Pili canaliculi Colitis Intractable diarrhea Chronic hepatitis Bloody diarrhea Trichorrhexis nodosa Villous atrophy Woolly hair Microcytic anemia Brittle hair Penile hypospadias Abnormality of the liver Prominent forehead Wide nasal bridge Dystonia Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Pontocerebellar atrophy Muscular hypotonia Hepatosplenomegaly Severe postnatal growth retardation Subcortical cerebral atrophy Abnormality of the renal tubule Cholestatic liver disease Recurrent hypoglycemia Breech presentation Diastasis recti Shallow orbits Postprandial hyperglycemia Steatorrhea Hyperglycemia Portal hypertension Visual loss Arnold-Chiari malformation Large fontanelles Hypochromic anemia Abnormal CNS myelination Weight loss Fatigue Midface retrusion Hypoplasia of the corpus callosum Gait disturbance Tremor Fever Dysarthria Respiratory insufficiency Neonatal asphyxia Cognitive impairment Edema Syndactyly Strabismus Ataxia Increased urinary sedoheptulose Abnormality of globe location Cholestasis Hip dysplasia Obesity Cellulitis Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Acute myeloid leukemia Myeloid leukemia Prolonged bleeding time Tapered finger Leukocytosis Chronic otitis media Myelodysplasia Intracranial hemorrhage Migraine Webbed neck Myeloproliferative disorder Erysipelas Short foot Neurological speech impairment Arthrogryposis multiplex congenita Pallor Scarring Narrow mouth Leukemia Renal insufficiency Nausea and vomiting Macronodular cirrhosis Vertigo Flexion contracture Lymphadenopathy Bruising susceptibility Hemolytic anemia Hematuria Abnormal neutrophil count Hernia Clinodactyly Abnormality of the nervous system Postural tremor Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Dysdiadochokinesis Long nose Slurred speech Goiter Acanthosis nigricans Smooth philtrum Hypergonadotropic hypogonadism Insulin resistance Truncal obesity Cerebellar vermis atrophy Broad-based gait Long neck Spasticity Cleft palate Lymphedema Muscle weakness Micrognathia Generalized tonic-clonic seizures Gastrointestinal stroma tumor Abnormality of lipid metabolism Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormal lung morphology Cutaneous photosensitivity Babinski sign Rigidity Short philtrum Attention deficit hyperactivity disorder Abnormal pyramidal sign Retinopathy Interstitial pulmonary abnormality Arachnoid cyst Pierre-Robin sequence Synophrys Mandibular prognathia Hypothyroidism Micropenis Diabetes mellitus Hypogonadism Severe short stature Pes cavus Hypermetropia Dysmetria Renal hypoplasia Decreased testicular size Epidermal acanthosis Apraxia Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Convex nasal ridge Long face Renal agenesis Progressive cerebellar ataxia Broad nasal tip Generalized myoclonic seizures Polyneuropathy Abnormal bleeding Falls Chronic bronchitis



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