Brachydactyly, and Atrial septal defect

Diseases related with Brachydactyly and Atrial septal defect

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


Top matches:

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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Other less relevant matches:

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Low match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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 THANATOPHORIC DYSPLASIA, TYPE I; TD1


Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Atrial septal defect

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flat face Seizures Global developmental delay Depressed nasal bridge Macrocephaly Intellectual disability Kyphosis Proptosis Hypoplastic ilia Short sacroiliac notch Narrow chest Lethal short-limbed short stature Cloverleaf skull Increased nuchal translucency Micromelia Short femur Aplasia/Hypoplasia of the lungs Redundant skin Acanthosis nigricans Platyspondyly Abnormality of the kidney Ventricular septal defect Cryptorchidism Abnormality of the metaphysis Skeletal dysplasia Polyhydramnios Hydrocephalus Respiratory insufficiency Ventriculomegaly Muscular hypotonia

Rare Symptoms - Less than 30% cases


Joint stiffness Radioulnar synostosis Intellectual disability, profound Epicanthus Sensorineural hearing impairment Split hand Abnormality of the skeletal system Heterotopia Severe short-limb dwarfism Syndactyly Patent foramen ovale Cleft lip Telecanthus Clinodactyly Wide nasal bridge Hypertelorism Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Small face Bowing of the long bones Flared metaphysis Abnormality of neuronal migration Metaphyseal irregularity Disproportionate short-limb short stature Short ribs Growth delay Severe short stature Small nail Femoral bowing Wide anterior fontanel Excessive wrinkled skin Decreased fetal movement Toe syndactyly Malar flattening Short foot Hyperactivity Failure to thrive Generalized hypotonia Low-set ears Anteverted nares Midface retrusion Vomiting Aganglionic megacolon Attention deficit hyperactivity disorder Aplasia cutis congenita Oligodactyly Progressive proximal muscle weakness Spastic diplegia Abnormality of the coagulation cascade Broad forehead Dystrophic toenail Right ventricular hypertrophy Calcinosis Prominent superficial veins Esophageal varix Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Portal vein thrombosis Prominent scalp veins Cutis marmorata Ventricular hypertrophy Portal hypertension Proximal muscle weakness Hypertension Myopathy Congestive heart failure Splenomegaly Hernia Encephalopathy Abnormal heart morphology Inguinal hernia Umbilical hernia Abnormal cardiac septum morphology Ischemic stroke Stroke Severe global developmental delay Abnormality of the cerebral white matter Pulmonic stenosis Hepatic failure Ascites Hip dysplasia Coarctation of aorta Pulmonary arterial hypertension Hyperammonemia Cutis marmorata telangiectatica congenita Microcephaly Chronic hepatic failure Narrow naris Sprengel anomaly Vitiligo Carpal synostosis Blue irides Heterochromia iridis White hair Atelectasis White forelock Bronchomalacia Partial albinism Premature graying of hair Dacryocystitis Poliosis Respiratory distress Polymicrogyria Limb undergrowth Epidermal acanthosis Short long bone Megalencephaly Lethal skeletal dysplasia Craniofacial dysostosis Cutaneous finger syndactyly Albinism Calcinosis cutis Arthrogryposis multiplex congenita Right atrial enlargement Muscle weakness Flexion contracture Talipes equinovarus Intellectual disability, severe Mandibular prognathia Blepharophimosis Camptodactyly of finger Prominent nasal bridge Spastic paraplegia Synophrys Congenital sensorineural hearing impairment Paraplegia Abnormality of skin pigmentation Thick vermilion border Hypopigmentation of the skin Abdominal distention Underdeveloped nasal alae Anorexia Joint contracture of the hand Scapular winging Hypopigmented skin patches Motor delay Tricuspid regurgitation Hypoplastic right heart Delayed speech and language development Coronal hypospadias Thin upper lip vermilion Gastroesophageal reflux Autism Posteriorly rotated ears Constipation Behavioral abnormality Fever Myopia Feeding difficulties Abnormal localization of kidney Pain Abnormal facial shape Strabismus Glandular hypospadias Hydrometrocolpos Urethral stricture Urogenital sinus anomaly Ectopic anus Postaxial foot polydactyly Dimple chin Ulnar deviation of finger Hypoplastic left heart Conductive hearing impairment Small hand Broad-based gait Obsessive-compulsive behavior Wide mouth Autistic behavior Hyperlordosis Abnormality of the dentition Hypospadias Macrotia Protruding ear Chorioretinal coloboma Coloboma Facial asymmetry Low-set, posteriorly rotated ears Iris coloboma Microcornea Choanal atresia Short toe Abnormal palate morphology Anxiety Tarsal synostosis Abnormality of the metacarpal bones Pulmonary artery atresia Dental malocclusion Hemangioma Micrognathia Round face Short neck Short nose Long philtrum Upslanted palpebral fissure Prominent forehead Downturned corners of mouth Webbed neck Bilateral talipes equinovarus Blue sclerae Broad thumb Long eyelashes Short phalanx of finger Gingival overgrowth Hypermetropia Mesomelia Agenesis of permanent teeth Anteriorly placed anus Scoliosis Fibular hypoplasia Renal hypoplasia/aplasia Hydronephrosis Multicystic kidney dysplasia Postaxial hand polydactyly Tetralogy of Fallot Abnormality of the sacroiliac joint Anal atresia Cognitive impairment Finger syndactyly Joint hyperflexibility Limitation of joint mobility Encephalocele Short 5th finger High palate Holoprosencephaly Unilateral ulnar hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Short thorax Occipital encephalocele Aplasia/Hypoplasia of the ulna Lower limb asymmetry Severe platyspondyly



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