Brachydactyly, and Premature birth

Diseases related with Brachydactyly and Premature birth

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


Top matches:

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Medium match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

Medium match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Medium match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Medium match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Medium match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Medium match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Premature birth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Proptosis

Uncommon Symptoms - Between 30% and 50% cases


Skeletal dysplasia Generalized hypotonia Intrauterine growth retardation Malar flattening Abnormality of cardiovascular system morphology Cryptorchidism Hearing impairment Seizures Low-set ears Retrognathia Patent ductus arteriosus Coarctation of aorta Clinodactyly Failure to thrive Posteriorly rotated ears Clinodactyly of the 5th finger Short thumb Meningitis Short stature Flexion contracture Sensorineural hearing impairment Syndactyly Hypertelorism Strabismus Depressed nasal bridge Anteverted nares Short neck Talipes equinovarus Abnormality of the skeletal system Toe syndactyly Tetralogy of Fallot Long philtrum Short nose Intellectual disability, mild Polydactyly Split hand Hemiparesis Abnormality of the kidney Polymicrogyria Muscular hypotonia Short toe Severe short stature Short metacarpal Hip contracture Spasticity Polyhydramnios Postnatal growth retardation Limb undergrowth Agenesis of corpus callosum Vomiting Pain Cleft upper lip Cataract Hypoplasia of the corpus callosum Atrial septal defect Hypertonia Microphthalmia Cerebellar hypoplasia Feeding difficulties Sparse hair Prominent nasal bridge Finger syndactyly Hydrocephalus Congestive heart failure Scoliosis Aortic valve stenosis Short femur Fever Edema Rhizomelia Glaucoma Hip dislocation Micromelia Abnormality of the metacarpal bones Ptosis Severe intrauterine growth retardation Midface retrusion Frontal bossing

Rare Symptoms - Less than 30% cases


Gastroschisis Unilateral renal agenesis Overlapping toe Muscle stiffness Aganglionic megacolon Aplasia/Hypoplasia of the radius Talipes Bicornuate uterus Autistic behavior Gastroesophageal reflux Encephalocele Hydronephrosis Autism Renal cyst Hypoplasia of the frontal lobes Abnormality of the urinary system Abnormal form of the vertebral bodies Delayed speech and language development Renal hypoplasia Oligohydramnios Respiratory distress Micropenis Recurrent infections Hypospadias Constipation Congenital diaphragmatic hernia Brachycephaly Respiratory failure Choanal atresia Pachygyria Absence seizures Bilateral single transverse palmar creases Radial deviation of finger Proximal placement of thumb Clitoral hypertrophy Radioulnar synostosis Hypoplasia of the radius Knee flexion contracture Bowing of the long bones Aplasia/Hypoplasia of the thumb Hypotrichosis Corneal opacity High palate Nystagmus Abnormality of the upper limb Abnormality of the lower limb Cutis marmorata Absent thumb Absent radius Elbow dislocation Wide mouth Short humerus Long clavicles Cognitive impairment Hypertension Ventriculomegaly Microtia Low-set, posteriorly rotated ears Osteopenia Respiratory insufficiency Phocomelia Dilatation Thrombocytopenia Abnormal heart morphology Upper limb undergrowth Alopecia 11 pairs of ribs Absent toe Hepatomegaly Hypogonadism Eczema Underdeveloped nasal alae Craniosynostosis Single transverse palmar crease Hepatosplenomegaly EEG abnormality Thick vermilion border Sleep disturbance Recurrent otitis media Pneumonia Finger clinodactyly Bicuspid aortic valve Supernumerary nipple Prominent occiput Lymphadenopathy Femoral bowing Joint dislocation Splenomegaly Urticaria Partial agenesis of the corpus callosum Macrocephaly Recurrent pneumonia Sinusitis Narrow chest Spondyloepiphyseal dysplasia Wide nasal bridge Fatigue Shoulder flexion contracture Submucous cleft hard palate Osteomalacia Abnormality of the distal phalanx of finger Abnormality of the pubic bone Broad palm Disproportionate short stature Long nose Abnormality of the tragus Prolonged neonatal jaundice Abnormality of calcium-phosphate metabolism Cortical gyral simplification Hydroureter Multiple joint contractures Diabetes insipidus Bifid femur Large hands Rickets Preaxial polydactyly High myopia Loss of eyelashes Abnormality of the intervertebral disk Epileptic spasms Thin eyebrow Abnormally ossified vertebrae Central hypothyroidism Small anterior fontanelle Aplasia/hypoplasia of the femur Large iliac wings Aplastic clavicle Tethered cord Broad distal phalanx of finger Abnormality of the upper urinary tract Colpocephaly Arachnoid cyst Sacral dimple Agenesis of cerebellar vermis Abnormal cortical gyration Hypoplastic ilia Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Thickened nuchal skin fold Profound global developmental delay Metaphyseal widening Lissencephaly Lower eyelid coloboma Upper airway obstruction Rigidity Dyspnea Hypothyroidism Dumbbell-shaped long bone Hyperkeratosis Osteoporosis Delayed skeletal maturation Cerebral atrophy Hypoplasia of first ribs Sparse lower eyelashes Short distal phalanx of the thumb Muscular hypotonia of the trunk Laryngeal hypoplasia Hemifacial hypoplasia Hypoplasia of the epiglottis Velopharyngeal insufficiency Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Anemia Aqueductal stenosis Visual impairment Abnormality of the nervous system Apnea Sparse eyelashes Glossoptosis Short chin Elbow flexion contracture Sparse and thin eyebrow Heterotopia Abnormality of the metaphysis Enlarged metaphyses Sparse scalp hair Fine hair Cerebellar vermis hypoplasia Status epilepticus Hypsarrhythmia Sloping forehead Abnormality of the pinna Specific learning disability Prominent nose Delayed myelination Bifid uvula Hypoplastic scapulae Short palm Bulbous nose Dry skin Platyspondyly Dolichocephaly Small for gestational age Bowed humerus Noncompaction cardiomyopathy Absent knee epiphyses Abnormal eyelash morphology Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Tracheal stenosis Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Postaxial foot polydactyly Self-mutilation Abnormal lung lobation Cholestatic liver disease Epiphyseal stippling Hypopigmentation of hair Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency 2-3 toe syndactyly Breech presentation Abnormality of the larynx Abnormality of dental morphology Hip subluxation Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Periventricular gray matter heterotopia Talipes calcaneovalgus Increased serum testosterone level Median cleft palate Gastrointestinal dysmotility Mesomelic short stature Broad alveolar ridges Increased nuchal translucency Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Metatarsus adductus Aplasia/Hypoplasia of the cerebellum Cleft vertebral arch Feeding difficulties in infancy Peripheral demyelination Dandy-Walker malformation Wide intermamillary distance Renal agenesis Webbed neck Intestinal malrotation Hypopigmentation of the skin Iris coloboma Postaxial polydactyly Pulmonary hypoplasia Attention deficit hyperactivity disorder Intellectual disability, moderate Narrow forehead Aggressive behavior Hypoglycemia Hyperactivity Trismus Kyphosis Behavioral abnormality Diarrhea Intellectual disability, severe Optic atrophy Epicanthus Bifid first metacarpal Postaxial hand polydactyly Ambiguous genitalia Bifid scrotum Abnormal dermatoglyphics Hammertoe Self-injurious behavior Hyponatremia Precocious puberty Pyloric stenosis Poor suck Reduced number of teeth Optic nerve hypoplasia Renal hypoplasia/aplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Hypercholesterolemia Hypoplasia of penis Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Multicystic kidney dysplasia Gingival overgrowth Amblyopia Dental crowding Abnormality of the genital system Cutaneous photosensitivity Intellectual disability, profound Abnormality of the ribs Decreased fetal movement Upslanted palpebral fissure Atrioventricular block Hypoplasia of the zygomatic bone Multiple joint dislocation Hand polydactyly Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Mesoaxial hand polydactyly No permanent dentition Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Laryngeal stenosis Depressed nasal ridge Aplasia/Hypoplasia of the ulna Parasomnia Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae Muscular ventricular septal defect Radial bowing Bell-shaped thorax Loss of speech Coarse hair Broad nasal tip Atonic seizures Esotropia Portal hypertension Abnormal granulocyte morphology Leukopenia Telangiectasia Myopia High forehead Protruding ear Small nail Pulmonary arterial hypertension Nail dysplasia Gastrointestinal hemorrhage Hypodontia Ascites Short distal phalanx of finger Short philtrum Cirrhosis Broad forehead Pulmonic stenosis Leukemia Thick eyebrow Abnormal cardiac septum morphology Everted lower lip vermilion Highly arched eyebrow Symphalangism of the 5th finger Progressive spasticity Hypoplastic left heart Tachypnea Downturned corners of mouth Macrotia Retinal dystrophy Mandibular prognathia Weight loss Abdominal pain Cardiomegaly Recurrent respiratory infections Depressivity Narrow palpebral fissure Eosinophilia Anxiety Pleural effusion Gait disturbance Hyperreflexia Long palpebral fissure Irregular vertebral endplates Narrow nose Pulmonary edema Short digit Humoral immunodeficiency Prominent eyelashes Biconvex vertebral bodies Deeply set eye Hyperlordosis Tibial bowing Immunodeficiency Flat occiput Clubbing Oral-pharyngeal dysphagia Mesoaxial foot polydactyly Short metatarsal Hyperkinesis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Distal/middle symphalangism of 5th finger Aspiration Respiratory tract infection Recurrent urinary tract infections Lumbar hyperlordosis Otitis media Generalized myoclonic seizures Abdominal distention Inability to walk Nausea Thin upper lip vermilion Poor speech Generalized tonic-clonic seizures Tachycardia Retrobulbar optic neuritis Cortical dysplasia Facial cleft Patellar aplasia Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Papule Long penis Subvalvular aortic stenosis Fair hair Tetraphocomelia Low hanging columella Capillary hemangioma Nausea and vomiting External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Migraine Overgrowth Vasculitis Short femoral neck Purpura Mesomelic arm shortening Midface capillary hemangioma Reduced bone mineral density Preauricular skin tag Non-midline cleft lip Limited elbow extension Aplasia/Hypoplasia of the eyebrow Broad hallux Hallux valgus Spastic diplegia Triphalangeal thumb Atresia of the external auditory canal Irregular femoral epiphysis Abnormal palate morphology Blindness Premature separation of centromeric heterochromatin Arthralgia Dental malocclusion Hypoplasia of the maxilla Myalgia Joint stiffness Camptodactyly Arthritis Cleft lip Conductive hearing impairment Hernia Skin rash Increased intracranial pressure Polycystic kidney dysplasia Aplasia/Hypoplasia of the skin Esophageal varix Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Abnormality of neutrophils Cutis marmorata telangiectatica congenita Pulmonary artery atresia Hypoplastic fingernail Pseudopapilledema Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Inflammatory abnormality of the eye Periventricular cysts Melanoma Falls Hemangioma Sandal gap Opacification of the corneal stroma Wormian bones Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Myocardial infarction Blue sclerae Chest pain Arthropathy Imperforate hymen Amyloidosis Paralysis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Neoplasm Elevated C-reactive protein level Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Elevated 7-dehydrocholesterol



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Oligohydramnios, related diseases and genetic alterations Ventricular septal defect and Renal cyst, related diseases and genetic alterations Brachydactyly and Spinal muscular atrophy, related diseases and genetic alterations

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