Abnormal facial shape, and Bronchiectasis

Diseases related with Abnormal facial shape and Bronchiectasis

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


Top matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY


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

Medium match NEPHRONOPHTHISIS 15; NPHP15


Related symptoms:

  • Seizures
  • Global developmental delay
  • Nystagmus
  • Abnormal facial shape
  • Blindness


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 15; NPHP15

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

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Other less relevant matches:

Medium 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

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium 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

Low match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bronchiectasis

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Pneumonia Diarrhea Delayed skeletal maturation Ichthyosis Lymphopenia Global developmental delay Intellectual disability Cryptorchidism Alopecia Anteverted nares Gingival overgrowth Decreased antibody level in blood Scoliosis Neutropenia Epicanthus Lymphoma Recurrent respiratory infections Conductive hearing impairment Brachydactyly Sensorineural hearing impairment Hearing impairment Cognitive impairment Malabsorption Micrognathia Abnormality of chromosome stability Respiratory tract infection Severe short stature Inflammatory abnormality of the skin

Rare Symptoms - Less than 30% cases


High pitched voice Low-set, posteriorly rotated ears Azoospermia Sacral dimple High palate Squamous cell carcinoma Hodgkin lymphoma Hepatomegaly Wide nasal bridge Splenomegaly Abnormal cardiac septum morphology Abnormality of the skeletal system Pectus carinatum Hypotrichosis Generalized hypotonia Exocrine pancreatic insufficiency Cellular immunodeficiency Communicating hydrocephalus Blue sclerae Combined immunodeficiency Sinusitis Telangiectasia Hypertrichosis Upper eyelid edema Pes planus Apnea Hypergonadotropic hypogonadism Sparse and thin eyebrow Abnormality of the kidney Overgrowth Neoplasm Joint hypermobility Cardiomyopathy Sparse hair Intellectual disability, mild Erythema Sleep apnea Retrognathia Hypogonadism Diabetes mellitus Hernia Dilatation Muscular hypotonia Leukemia Severe sensorineural hearing impairment Otitis media Joint laxity Atopic dermatitis Seizures Intrauterine growth retardation Osteoporosis Hypothyroidism Hypertelorism Low-set ears Depressed nasal bridge Macrocephaly Recurrent pneumonia Malar flattening Recurrent skin infections Short nose Lymphadenopathy Postnatal growth retardation Eczema Umbilical hernia Hemolytic anemia Polydactyly Blindness Flat face Abnormality of the distal phalanx of finger Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Congenital hypoplastic anemia Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Spinal dysraphism Large face Abnormal bone ossification Neonatal short-limb short stature Corneal arcus Absent pubertal growth spurt Impaired lymphocyte transformation with phytohemagglutinin Flexion contracture Atrial septal defect Hydrocephalus Ventriculomegaly Ventricular septal defect Upper airway obstruction Frontal bossing Fever Abnormal nasolacrimal system morphology Hyperreflexia Ptosis Sparse facial hair Body odor Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Hypersplenism Abnormality of humoral immunity Branchial cyst Biconvex vertebral bodies Severe T-cell immunodeficiency Abnormality of the inner ear Lip pit Branchial fistula Abnormality of the hip bone Morphological abnormality of the middle ear Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Tibial bowing Overweight Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Thrombocytosis Upper limb undergrowth Tracheobronchomalacia Aplasia/Hypoplasia affecting the eye Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Clinodactyly Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia of the abdominal wall musculature Heart block Abnormality of the pancreas Aplastic anemia Cochlear malformation B-cell lymphoma Hypoplasia of the cochlea Branchial anomaly Generalized joint laxity Tracheal stenosis Fair hair Edema Glossoptosis Patent ductus arteriosus Hallux valgus Bilateral camptodactyly Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Leukocytosis Enlarged kidney Hyperglycemia Stridor Retroperitoneal fibrosis Psoriasiform dermatitis Lipodystrophy Seborrheic keratosis Cleft palate Facial palsy Cervical lymphadenopathy Stiff skin Disproportionate short-limb short stature Panniculitis Myelofibrosis Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Facial telangiectasia Histiocytosis Abnormal eyebrow morphology Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Episcleritis Snoring Varicose veins Aspiration pneumonia Abnormality of the pinna Microtia Abnormal heart morphology Camptodactyly Abnormality of the foot Delayed puberty Retinopathy Abnormality of the outer ear Laryngomalacia Atresia of the external auditory canal Cupped ear Preauricular pit Mixed hearing impairment Polyneuropathy Hepatosplenomegaly Dyspnea Generalized lymphadenopathy Proptosis Micropenis Hyperkeratosis Posteriorly rotated ears Obstructive sleep apnea Cleft upper lip Recurrent fractures Plagiocephaly Epistaxis Osteolysis Type I diabetes mellitus Elbow flexion contracture Aspiration Gynecomastia Hyperpigmentation of the skin Primary amenorrhea Hypertriglyceridemia Facial asymmetry Full cheeks Preauricular skin tag Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Abnormality of pelvic girdle bone morphology Visual impairment Reduced tendon reflexes Sensory impairment Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Glomerulonephritis Leukopenia Narrow palpebral fissure Vasculitis Asthma Cortical myoclonus Abnormality of the nervous system Gastroesophageal reflux Myoclonus Hyporeflexia Dysarthria Ataxia Impaired T cell function Abnormality of neutrophils Autoimmune neutropenia Downslanted palpebral fissures Chronic bronchitis Decreased body weight Abnormality of the sternum Prolonged bleeding time Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Redundant skin Hyperextensible skin Cutis laxa Sparse scalp hair Long philtrum Thick lower lip vermilion High myopia Narrow forehead Single transverse palmar crease Everted lower lip vermilion Thick vermilion border Hirsutism Bruising susceptibility Coarse facial features Decrease in T cell count Agammaglobulinemia Abnormality of the vasculature Cheilitis Cerebellar vermis hypoplasia Hepatic failure Retinal degeneration Abnormality of the liver Elevated hepatic transaminase Obesity Nystagmus Mastoiditis Gastritis Congenital blindness Recurrent aphthous stomatitis Recurrent viral infections Abnormality of the gastrointestinal tract Esophagitis Gingivitis Clubbing Recurrent bacterial infections Meningitis Nephronophthisis Glaucoma Shawl scrotum Erythroid dysplasia Protruding tongue Bronchitis Malnutrition Sepsis Macroglossia Neurodegeneration High forehead Hypospadias Folliculitis Respiratory failure Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Autoimmune hemolytic anemia Erythroderma Myelodysplasia Abnormal intestine morphology Abnormal lung morphology Dry skin Palpebral edema Generalized osteoporosis Abnormal palate morphology Brachycephaly Joint hyperflexibility Narrow chest Arthrogryposis multiplex congenita Hyperlordosis Carcinoma EEG abnormality Skeletal dysplasia Macrotia Prominent forehead Short palm Constipation Thrombocytopenia Short neck Respiratory insufficiency Myopia Hypertension Strabismus Facial telangiectasia in butterfly midface distribution Micromelia Small hand Neoplasm of the gastrointestinal tract Aganglionic megacolon Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Bowing of the long bones Hypopigmentation of the skin Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Gastrointestinal hemorrhage Postural instability Agenesis of maxillary lateral incisor Spotty hyperpigmentation Eclabion Protruding ear Type II diabetes mellitus Specific learning disability Abnormality of the skin Prominent nose Infertility Dolichocephaly Finger syndactyly Skin rash Hyperhidrosis Abnormality of the face Clinodactyly of the 5th finger Syndactyly Abnormality of the dentition Microcephaly Infra-orbital fold Abnormal lip morphology Irregular dentition Urethral stenosis Cutaneous photosensitivity Cafe-au-lait spot Spotty hypopigmentation Hypoplasia of the zygomatic bone Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Chromosome breakage Acute leukemia Narrow face IgG deficiency IgA deficiency Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin Pulmonary fibrosis Hand polydactyly Reduced number of teeth Hypopigmented skin patches Dilatated internal auditory canal



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