Hypertelorism, and Bronchiectasis

Diseases related with Hypertelorism and Bronchiectasis

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

Top matches:

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Medium match PFEIFFER SYNDROME

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Bronchiectasis

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Bronchomalacia Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proptosis Pneumonia Midface retrusion Failure to thrive Syndactyly Umbilical hernia Malar flattening Flexion contracture Anteverted nares Bronchitis Respiratory distress Dilatation Hernia Frontal bossing Otitis media Hearing impairment Clinodactyly Scoliosis Conductive hearing impairment High palate Epicanthus Craniosynostosis Immunodeficiency Recurrent infections Recurrent respiratory infections Intellectual disability Sinusitis Skin rash Malabsorption Mandibular prognathia Micrognathia Dyspnea

Rare Symptoms - Less than 30% cases

Short nose Global developmental delay Hypospadias Short stature Abnormal facial shape Anemia High forehead Joint contracture of the hand Low-set ears Cryptorchidism Respiratory tract infection Growth delay Flat face Humeroradial synostosis Recurrent fractures Epidermal acanthosis Abnormality of the foot Camptodactyly Micropenis Strabismus Abnormality of the dentition Abnormality of the skeletal system Wide nose Atrial septal defect Arnold-Chiari malformation Hydrocephalus Hallux valgus Cloverleaf skull Sensorineural hearing impairment Premature skin wrinkling Choanal stenosis Decrease in T cell count Carpal synostosis Communicating hydrocephalus Choanal atresia Hemivertebrae Broad thumb Thick vermilion border Laryngomalacia Respiratory failure Recurrent bacterial infections Inguinal hernia Sepsis Decreased antibody level in blood Retrognathia Finger syndactyly Tracheomalacia Long philtrum Convex nasal ridge B lymphocytopenia Verrucae Agammaglobulinemia Recurrent sinusitis Chronic otitis media Recurrent pneumonia Recurrent skin infections Full cheeks Cough Emphysema Diarrhea Fatigue Stridor Microcephaly Pulmonary artery stenosis Fever Cutis laxa Prematurely aged appearance Hypopigmentation of the skin Vesicovaginal fistula Low maternal serum estriol Sloping forehead Abdominal distention Abnormalities of placenta or umbilical cord Maternal virilization in pregnancy Cleft palate Abnormality of skin pigmentation Joint laxity Paraplegia Blepharophimosis Synophrys Intellectual disability, severe Pulmonary hypoplasia Arthrogryposis multiplex congenita Vomiting Sparse hair Telecanthus Spastic paraplegia Prominent nasal bridge Camptodactyly of finger Cleft lip Ulnar bowing Oligohydramnios Congenital diaphragmatic hernia Pyloric stenosis Arachnodactyly Small for gestational age Abnormality of the genital system Horseshoe kidney Aganglionic megacolon Abnormality of the pinna Brachycephaly Abnormality of metabolism/homeostasis Rectal prolapse Periorbital edema Scrotal hypoplasia Bladder diverticulum Peripheral pulmonary artery stenosis Patent foramen ovale Polycystic ovaries Chordee Sandal gap Recurrent urinary tract infections Large fontanelles Microretrognathia Labial hypoplasia Ambiguous genitalia Abnormality of the endocrine system Abnormality of abdomen morphology Radioulnar synostosis Tarsal synostosis Femoral bowing Multiple joint contractures Rocker bottom foot Bifid scrotum Clitoral hypertrophy Underdeveloped nasal alae Preaxial polydactyly Anorexia Asthma Urticaria Eosinophilia Skin ulcer Inflammatory abnormality of the skin Thick lower lip vermilion Eczema Prominent nose Lymphoma Joint hypermobility Atopic dermatitis Facial asymmetry Pruritus Erythema Deeply set eye Coarse facial features Osteopenia Osteoporosis Prominent forehead Squamous cell carcinoma Recurrent bronchitis Dysphagia Recurrent bacterial skin infections Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Eczematoid dermatitis Chronic mucocutaneous candidiasis T-cell lymphoma Recurrent fungal infections Fractures of the long bones Persistence of primary teeth Red hair Increased IgE level Recurrent sinopulmonary infections Hemihypertrophy Constipation Cartilaginous trachea Scapular winging White hair Polydactyly Downslanted palpebral fissures Poliosis Dacryocystitis Partial albinism Narrow naris White forelock Atelectasis Heterochromia iridis Toe syndactyly Blue irides Vitiligo Sprengel anomaly Cutaneous finger syndactyly Premature graying of hair Albinism Congenital sensorineural hearing impairment Hypopigmented skin patches Broad forehead Hypoplasia of the maxilla Short middle phalanx of toe Oxycephaly Bicoronal synostosis Shortening of all middle phalanges of the fingers Broad phalanx Elbow ankylosis Brachyturricephaly Craniofacial dysostosis Long hallux Anterior plagiocephaly Tracheal stenosis Dental crowding Coronal craniosynostosis Shallow orbits Ankylosis Natal tooth Broad hallux Macrotia Atresia of the external auditory canal Acanthosis nigricans Short thumb Hydronephrosis Skin nodule Gastroesophageal reflux Cellular immunodeficiency Ventricular septal defect Hepatomegaly Hyperreflexia Ptosis Impaired T cell function Abnormality of neutrophils Abnormality of chromosome stability Chronic bronchitis Edema Shawl scrotum Protruding tongue Combined immunodeficiency Malnutrition Lymphopenia Macroglossia Neurodegeneration Macrocephaly Ventriculomegaly Intellectual disability, mild Aortic rupture Hypothyroidism Retinopathy Abnormal cardiac septum morphology Apnea Abnormality of the kidney Low-set, posteriorly rotated ears Hepatosplenomegaly Pes planus Hyperkeratosis Splenomegaly Diabetes mellitus Hypogonadism Posteriorly rotated ears Severe short stature Alopecia Delayed skeletal maturation Abnormal heart morphology Patent ductus arteriosus Repeated pneumothoraces Bowel diverticulosis Hypotrichosis Osteomyelitis Pulmonic stenosis Renal insufficiency Feeding difficulties Recurrent enteroviral infections Crohn's disease External ear malformation Cellulitis Encephalitis Coarctation of aorta Conjunctivitis Meningitis Chronic diarrhea Recurrent otitis media Hepatitis Dehydration Neutropenia Arthritis Joint hyperflexibility Ventricular hypertrophy Uterine prolapse Abnormal heart valve morphology Subglottic stenosis Upper airway obstruction Right ventricular hypertrophy Raynaud phenomenon Aortic dissection Heart block Aortic root aneurysm Infantile spasms Mitral regurgitation Heart murmur Aortic aneurysm Redundant skin Systemic lupus erythematosus Venous thrombosis Aortic regurgitation Hoarse voice Abnormality of the face Pectus carinatum Delayed puberty Intercostal retractions Abnormality of cardiovascular system physiology Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Chronic rhinitis Episcleritis Reticulocytopenia Histiocytosis Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Panniculitis Snoring Exocrine pancreatic insufficiency Abnormality of the hand Bronchospasm Parietal bossing Short columella Abnormality of digit Exertional dyspnea Interstitial pulmonary abnormality Short middle phalanx of finger Tachypnea Stiff skin Highly arched eyebrow Polyhydramnios Pectus excavatum Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Enlarged kidney Severe sensorineural hearing impairment Lymphadenopathy Bilateral sensorineural hearing impairment Telangiectasia Primary amenorrhea Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Cardiomegaly Mitral valve prolapse Hyperpigmentation of the skin Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Polyneuropathy Cleft upper lip Ichthyosis Gingival overgrowth Gynecomastia Episodic fever Hyperglycemia Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Leukocytosis Psoriasiform dermatitis Aspiration Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Impaired neutrophil chemotaxis


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