Cleft palate, and Bronchiectasis

Diseases related with Cleft palate and Bronchiectasis

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


Top matches:

Medium match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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

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Other less relevant matches:

Medium match AUTOSOMAL AGAMMAGLOBULINEMIA


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

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

Low 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

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

Low match ATELOSTEOGENESIS TYPE II


Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

Low match WAARDENBURG SYNDROME, TYPE 3; WS3


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

Top 5 symptoms//phenotypes associated to Cleft palate and Bronchiectasis

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Global developmental delay Scoliosis Immunodeficiency Recurrent infections Recurrent respiratory infections Lymphopenia Brachydactyly Respiratory insufficiency Wide nasal bridge High palate Anemia Growth delay Neutropenia Cognitive impairment Abnormality of the skeletal system Gingival overgrowth Epicanthus Diarrhea Short neck Generalized hypotonia Depressed nasal bridge Micrognathia Malabsorption Alopecia Severe short stature Hypertelorism Conductive hearing impairment Retrognathia Splenomegaly Microcephaly Lymphoma Pectus carinatum Joint laxity Hepatomegaly Clinodactyly Hernia Thrombocytopenia Atrial septal defect

Rare Symptoms - Less than 30% cases


Primary amenorrhea Chronic diarrhea Delayed skeletal maturation Telangiectasia Anteverted nares Recurrent pneumonia Fever Sinusitis B lymphocytopenia Premature ovarian insufficiency Combined immunodeficiency Anal stenosis Hypogonadism Flexion contracture Abnormality of chromosome stability B-cell lymphoma Exocrine pancreatic insufficiency Pes planus Sparse hair Tracheobronchomalacia Upper limb undergrowth Aganglionic megacolon Lumbar hyperlordosis Hypopigmentation of the skin Micromelia Narrow chest Arthrogryposis multiplex congenita Hyperlordosis Skeletal dysplasia Sparse and thin eyebrow Thick vermilion border Joint hypermobility Dilatation Low-set, posteriorly rotated ears Muscular hypotonia Recurrent skin infections Upper eyelid edema Convex nasal ridge Severe sensorineural hearing impairment Sleep apnea Hypergonadotropic hypogonadism Blue sclerae Overgrowth Ichthyosis Hypotrichosis Abnormal cardiac septum morphology Apnea Abnormality of the kidney Amenorrhea Decreased antibody level in blood Recurrent bacterial infections Midface retrusion Ataxia Hydronephrosis Hepatosplenomegaly Sparse scalp hair Patent ductus arteriosus Abnormality of the nervous system Varicose veins Cutis laxa Kyphosis Macrotia Respiratory failure Hypertension Leukopenia Muscle weakness Plagiocephaly Cryptorchidism Neoplasm Prominent nasal bridge Cleft upper lip Single transverse palmar crease Leukemia Asthma Sepsis Hemolytic anemia Cone-shaped epiphysis Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Bronchiolitis Genu varum Metaphyseal widening Portal hypertension Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Diaphyseal thickening Sacral dimple Reduced tendon reflexes Abnormal diaphysis morphology Abnormal palate morphology Neoplasm of the skin Limited elbow extension Basal cell carcinoma Tracheal stenosis Hypoplasia of the odontoid process Fair hair Generalized joint laxity Heart block Aplastic anemia Overweight Thrombocytosis Distal arthrogryposis Esophageal atresia Hodgkin lymphoma Metaphyseal cupping Macrocytic anemia Metaphyseal dysplasia Abnormality of the pancreas Abnormality of the hip bone Aplasia/Hypoplasia of the abdominal wall musculature Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Tibial bowing Cellular immunodeficiency High hypermetropia Otitis media Accelerated skeletal maturation Generalized osteoporosis Cardiomyopathy Myopia Visual impairment Strabismus Infra-orbital fold Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Abnormality of the vasculature Prominent forehead Palpebral edema Abnormality of the sternum Prolonged bleeding time High pitched voice Aortic aneurysm Increased susceptibility to fractures Redundant skin Hyperextensible skin Decreased body weight Constipation Brachycephaly Sparse eyelashes Depressed nasal ridge Hypocalcemia Short ribs Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Normocytic anemia Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Fine hair Pulmonic stenosis Respiratory distress Abnormality of the ribs Gastrointestinal hemorrhage Postural instability Small hand Short palm Joint hyperflexibility Carcinoma EEG abnormality Mucopolysacchariduria Abnormal bone ossification Hypersplenism Short sacroiliac notch Camptodactyly of finger Blepharophimosis Cleft lip Telecanthus Mandibular prognathia Syndactyly Vomiting Intellectual disability, severe Dumbbell-shaped femur Horizontal sacrum Cervical kyphosis Synophrys Aplasia/hypoplasia of the extremities Mesomelic short stature Laryngeal stenosis Coronal cleft vertebrae Flat acetabular roof Thoracic hypoplasia Hypoplasia of the ulna Short middle phalanx of finger Patent foramen ovale Sandal gap Spastic paraplegia Paraplegia Talipes Vitiligo Dacryocystitis Partial albinism Narrow naris Bronchomalacia White forelock Atelectasis White hair Heterochromia iridis Blue irides Carpal synostosis Sprengel anomaly Abnormality of skin pigmentation Cutaneous finger syndactyly Premature graying of hair Albinism Congenital sensorineural hearing impairment Hypopigmented skin patches Scapular winging Joint contracture of the hand Anorexia Underdeveloped nasal alae Abdominal distention Pulmonary hypoplasia Platyspondyly Large face Metaphyseal dysostosis Low-set ears Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Non-Hodgkin lymphoma Abnormality of the pinna Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae High myopia Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Facial palsy Microtia Abnormality of metabolism/homeostasis Branchial cyst Malar flattening Talipes equinovarus Dilatated internal auditory canal Morphological abnormality of the middle ear Branchial anomaly Hypoplasia of the cochlea Cochlear malformation Lip pit Branchial fistula Abnormality of the inner ear Body odor Facial asymmetry Abnormal nasolacrimal system morphology Upper airway obstruction Obstructive sleep apnea Glossoptosis Mixed hearing impairment Preauricular pit Cupped ear Atresia of the external auditory canal Laryngomalacia Abnormality of the outer ear Preauricular skin tag Thick lower lip vermilion Coarse facial features Narrow forehead Micropenis Giant platelets Congenital neutropenia Camptodactyly Erythroid hypoplasia Monocytosis Intermittent thrombocytopenia Dyspnea Hypothyroidism Proptosis Hyperkeratosis Retinopathy Diabetes mellitus Neonatal sepsis Posteriorly rotated ears Cor triatriatum Abnormal heart morphology Intellectual disability, mild Edema Hydrocephalus Intrauterine growth retardation Ventriculomegaly Hypoplasia of the thymus Prominent superficial veins Frontal bossing Mitral valve prolapse Gynecomastia Hyperpigmentation of the skin Long fingers Hypertrichosis Hypertriglyceridemia Iron deficiency anemia Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Abnormality of lipid metabolism Delayed puberty Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Recurrent fractures Polyneuropathy Flat face Premature loss of teeth Lymphadenopathy Abnormality of the foot Ventricular septal defect Skeletal muscle atrophy Unilateral renal agenesis Deep philtrum Attention deficit hyperactivity disorder Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Small for gestational age Cachexia Hearing abnormality Low anterior hairline Abnormality of the hair Anal atresia Cafe-au-lait spot Recurrent urinary tract infections Abnormality of the face Choanal atresia Neurodegeneration Cutaneous photosensitivity Sloping forehead Acute lymphoblastic leukemia Acute leukemia Hypospadias Recurrent infection of the gastrointestinal tract Hyperreflexia Upslanted palpebral fissure Hyperactivity Ptosis Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly T-cell lymphoma Abnormal eyelid morphology Pollakisuria Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Intellectual disability, moderate Medulloblastoma Recurrent sinopulmonary infections Mental deterioration Recurrent bronchitis Aspiration Elbow flexion contracture Everted lower lip vermilion Crohn's disease Gastroesophageal reflux Myoclonus Hyporeflexia Dysarthria Mitral regurgitation Abnormal facial shape Broad thumb Seizures Recurrent enteroviral infections Verrucae Erythema Agammaglobulinemia External ear malformation Recurrent sinusitis Bronchitis Cellulitis Osteomyelitis Chronic otitis media Encephalitis Conjunctivitis Meningitis Respiratory tract infection Sensory impairment Hepatitis Pulmonary arterial hypertension Tapered finger Hirsutism Bruising susceptibility Umbilical hernia Prominent nose Osteoporosis Renal agenesis Long philtrum Downslanted palpebral fissures Macrocephaly Cortical myoclonus Eczema Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Glomerulonephritis Narrow palpebral fissure Vasculitis Inflammatory abnormality of the skin Recurrent otitis media Dehydration Type I diabetes mellitus Microcytic anemia Communicating hydrocephalus Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Tented upper lip vermilion Episodic fever Polycythemia Scleroderma Lipoatrophy Elevated erythrocyte sedimentation rate Recurrent pharyngitis Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Failure to thrive in infancy Azoospermia Osteolysis Decreased serum testosterone level Nasal obstruction Cough Panniculitis Skin rash Arthritis Fatigue Seborrheic keratosis Retroperitoneal fibrosis Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Facial telangiectasia Skin nodule Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Poliosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Lethargy, related diseases and genetic alterations Delayed speech and language development and Microdontia, related diseases and genetic alterations Edema and Type I diabetes mellitus, related diseases and genetic alterations High palate and Oligohydramnios, related diseases and genetic alterations Cognitive impairment and Urinary incontinence, related diseases and genetic alterations Failure to thrive and Diarrhea, related diseases and genetic alterations

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