Brachydactyly, and Bronchiectasis

Diseases related with Brachydactyly and Bronchiectasis

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


Top matches:

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 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:

Low match CHITAYAT SYNDROME; CHYTS


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

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

Low 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

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Low match KLEEFSTRA SYNDROME 1; KLEFS1


Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Top 5 symptoms//phenotypes associated to Brachydactyly and Bronchiectasis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Bronchomalacia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Global developmental delay Clinodactyly High palate Short stature Hernia Atrial septal defect Abnormal heart morphology Abnormal cardiac septum morphology Muscular hypotonia Cryptorchidism Syndactyly Dilatation Ventricular septal defect Failure to thrive Microcephaly Abnormal facial shape Anteverted nares Hypospadias Ptosis Single transverse palmar crease Abnormality of the pinna Depressed nasal bridge Thick vermilion border Pes planus Patent ductus arteriosus Seizures Hirsutism Downslanted palpebral fissures Retrognathia Hydrocephalus Tracheomalacia Micropenis Mandibular prognathia Sensorineural hearing impairment Anemia Abnormality of the skeletal system Cleft palate Midface retrusion Recurrent respiratory infections Highly arched eyebrow Proptosis Conductive hearing impairment Micrognathia Respiratory tract infection Short nose Dyspnea Growth delay Wide nasal bridge

Rare Symptoms - Less than 30% cases


Bilateral cryptorchidism Broad thumb Upper eyelid edema Epicanthus Finger syndactyly Polyhydramnios Flexion contracture Vitiligo Severe short stature Abdominal distention Abnormality of the kidney Renal insufficiency Flat face Intellectual disability, severe Abnormality of the foot Vomiting Malabsorption Telecanthus Blepharophimosis Short columella Ventriculomegaly Hypothyroidism Epidermal acanthosis Synophrys Posteriorly rotated ears Pneumonia Obesity Blue sclerae Intellectual disability, mild Respiratory distress Strabismus Full cheeks Narrow palpebral fissure Alopecia Long philtrum Hydronephrosis Pulmonic stenosis Wide nose Otitis media Postnatal growth retardation Agenesis of corpus callosum Natal tooth Hypogonadism Delayed speech and language development Hemolytic anemia Tracheal stenosis Gastroesophageal reflux Coarctation of aorta Anterior plagiocephaly Recurrent infections Immunodeficiency Cognitive impairment Hallux valgus Broad forehead Coarse facial features Overgrowth Intestinal malrotation Gingival overgrowth Downturned corners of mouth Sparse and thin eyebrow Growth hormone deficiency Hypergonadotropic hypogonadism Low-set ears Everted lower lip vermilion Abnormality of the dentition Small nail Joint hypermobility Ichthyosis Joint laxity Cerebral cortical atrophy Tetralogy of Fallot Developmental regression Psychosis Hypoplasia of penis Aggressive behavior Stereotypy Autistic behavior Macroglossia Limitation of joint mobility Vesicoureteral reflux Brachycephaly Malar flattening Renal cyst Delayed eruption of teeth Sleep disturbance Poor speech Facial asymmetry Upslanted palpebral fissure Abnormality of the cerebral white matter Arrhythmia Constipation Autism Hypoplastic left heart Behavioral abnormality Abnormality of cardiovascular system morphology Cerebellar vermis hypoplasia Oligohydramnios Postural instability Short palm Thin vermilion border Narrow chest Respiratory failure Cerebellar hypoplasia Cardiomyopathy Abnormality of the genital system Hypoplasia of the corpus callosum Short neck Dysphagia Intrauterine growth retardation Cartilaginous trachea Short middle phalanx of toe Bicoronal synostosis Shortening of all middle phalanges of the fingers Short palpebral fissure Pachygyria Talipes equinovarus Pierre-Robin sequence Laryngeal hypoplasia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Double outlet right ventricle Large fontanelles Anteriorly placed anus Tented upper lip vermilion Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Microretrognathia Sparse eyelashes Wide anterior fontanel Bicuspid aortic valve Autoimmunity Pyloric stenosis Congenital hypothyroidism Retinal coloboma Short 5th finger Depressed nasal tip Patellar dislocation Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis Autoimmune thrombocytopenia IgA deficiency Thyroiditis Autoimmune hemolytic anemia Optic nerve coloboma Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Preauricular pit Cupped ear Precocious puberty Brittle hair Mitral stenosis Cholangitis Poor suck Crossed fused renal ectopia Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Anorectal anomaly Small face Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Trichorrhexis nodosa Broad philtrum Failure to thrive in infancy Abnormality of the urinary system Chronic otitis media Persistence of primary teeth Macrotia Visual loss Depressivity Kyphosis Diarrhea Myopia Feeding difficulties Tracheobronchomalacia Exaggerated cupid's bow Conotruncal defect U-Shaped upper lip vermilion Abnormal myelination Hypoglycemia Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Pulmonary artery stenosis Protruding tongue Bowel incontinence Supernumerary nipple Impulsivity Obsessive-compulsive behavior Apathy Self-injurious behavior Jaundice Anxiety Abnormal dermatoglyphics Congenital diaphragmatic hernia Purpura Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Microdontia Intellectual disability, moderate Decreased antibody level in blood Dental malocclusion Prominent nose Hypodontia Polymicrogyria Astigmatism Anal atresia Elbow ankylosis Coloboma Paralysis Protruding ear Feeding difficulties in infancy Broad phalanx Aganglionic megacolon Brachyturricephaly Hyperkeratosis Lymphadenopathy Delayed puberty Hypotrichosis Pectus carinatum Retinopathy Apnea Camptodactyly Low-set, posteriorly rotated ears Hepatosplenomegaly Diabetes mellitus Polyneuropathy Delayed skeletal maturation Splenomegaly Edema Frontal bossing Fever Hepatomegaly Hyperreflexia Infra-orbital fold Abnormal lip morphology Cleft upper lip Recurrent fractures Urethral stenosis Gynecomastia Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Aspiration Hyperpigmentation of the skin Wide intermamillary distance Telangiectasia Primary amenorrhea Hypertrichosis Hypertriglyceridemia Epistaxis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Decreased testicular size Irregular dentition Eclabion Hyperglycemia Inflammatory abnormality of the skin Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Recurrent skin infections Leukopenia Vasculitis Lymphopenia Eczema Vasculitis in the skin Lymphoma Sensory impairment Asthma Neutropenia Erythema Abnormality of the nervous system Myoclonus Hyporeflexia Dysarthria Ataxia Membranoproliferative glomerulonephritis Autoimmune neutropenia Generalized osteoporosis Hyperextensible skin Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Redundant skin Cutis laxa Cortical myoclonus Decreased body weight Sparse scalp hair Thick lower lip vermilion High myopia Narrow forehead Bruising susceptibility Sparse hair Umbilical hernia Osteoporosis Macrocephaly Stridor Leukocytosis Craniofacial dysostosis Premature graying of hair Narrow naris White forelock Atelectasis White hair Heterochromia iridis Blue irides Carpal synostosis Sprengel anomaly Cutaneous finger syndactyly Albinism Dacryocystitis Congenital sensorineural hearing impairment Hypopigmented skin patches Scapular winging Joint contracture of the hand Anorexia Underdeveloped nasal alae Hypopigmentation of the skin Abnormality of skin pigmentation Paraplegia Arthrogryposis multiplex congenita Partial albinism Poliosis Prominent nasal bridge Preaxial polydactyly Long hallux Humeroradial synostosis Oxycephaly Cloverleaf skull Choanal stenosis Coronal craniosynostosis Shallow orbits Ankylosis Broad hallux Atresia of the external auditory canal Polydactyly Arnold-Chiari malformation Acanthosis nigricans Short thumb Dental crowding Choanal atresia Convex nasal ridge Hypoplasia of the maxilla Toe syndactyly Craniosynostosis High forehead Spastic paraplegia Camptodactyly of finger Increased antibody level in blood Varicose veins Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Aspiration pneumonia Broad finger Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Pancreatic hypoplasia Hyperplasia of the maxilla Cleft lip Pectus excavatum Intercostal retractions Bronchospasm Parietal bossing Abnormality of digit Exertional dyspnea Interstitial pulmonary abnormality Short middle phalanx of finger Abnormality of the hand Tachypnea Seborrheic keratosis Corneal arcus Retroperitoneal fibrosis Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Congenital mitral stenosis



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