Brachydactyly, and Encephalocele

Diseases related with Brachydactyly and Encephalocele

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


Top matches:

Low match FRONTORHINY


Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

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 FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CRANIOFRONTONASAL DYSPLASIA


Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

CRANIOFRONTONASAL DYSPLASIA Is also known as cfnd|cfns|craniofrontonasal syndrome|craniofrontonasal dysostosis|craniofrontonasal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFRONTONASAL DYSPLASIA

Low match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Low 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

Low match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Low 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

Low match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Top 5 symptoms//phenotypes associated to Brachydactyly and Encephalocele

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Talipes Brachycephaly Talipes equinovarus Microphthalmia Epicanthus Frontal bossing Cataract Cleft lip Skeletal dysplasia Ventriculomegaly Hydrocephalus Atrial septal defect Proptosis Occipital encephalocele Abnormality of the kidney Generalized hypotonia Growth delay Cryptorchidism Failure to thrive Micrognathia Wide nasal bridge Agenesis of corpus callosum Depressed nasal bridge Scoliosis Widow's peak Seizures Strabismus Hypospadias Camptodactyly of finger Clinodactyly Hearing impairment Abnormality of the skeletal system Muscular hypotonia Oligohydramnios Craniosynostosis Preauricular skin tag Feeding difficulties Postaxial polydactyly Hypoplasia of the maxilla Recurrent respiratory infections Tetralogy of Fallot Underdeveloped nasal alae Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Ptosis Hypoplasia of the corpus callosum Intrauterine growth retardation Posteriorly rotated ears Polydactyly Patent ductus arteriosus Toe syndactyly Polyhydramnios Macrocephaly High palate Short ribs Cleft upper lip Lipoma of corpus callosum Cranium bifidum occultum Wide nose Conductive hearing impairment Severe short stature Finger syndactyly Syndactyly Oral cleft Short neck

Rare Symptoms - Less than 30% cases


Coronal craniosynostosis Abnormality of the genital system Interphalangeal joint contracture of finger Abnormal facial shape Hyperlordosis Depressed nasal ridge Hand polydactyly Hypoplastic toenails Coloboma Cutaneous finger syndactyly Radial deviation of finger Renal dysplasia Short nose Recurrent urinary tract infections Alopecia Abnormal heart morphology Thrombocytopenia Dilatation Ventricular septal defect Premature birth Meningitis Sparse hair Bell-shaped thorax Meningocele Long clavicles Supernumerary nipple Dandy-Walker malformation Cerebellar hypoplasia Gastroesophageal reflux Prominent nasal bridge Retrognathia Split hand Short philtrum Renal cyst Renal agenesis Decreased testicular size Limb undergrowth Postaxial hand polydactyly Joint dislocation Malar flattening Abnormality of the outer ear Median cleft lip Porencephalic cyst Calvarial skull defect Oligodactyly Abnormality of the metacarpal bones Flexion contracture Telecanthus Bifid nasal tip Cognitive impairment Bifid nose Facial cleft Micromelia Joint hyperflexibility Narrow chest Diabetes insipidus Disproportionate short-limb short stature Pectoral muscle hypoplasia/aplasia Hypoplastic frontal sinuses Finger clinodactyly Nystagmus Short femur Downslanted palpebral fissures Midface retrusion Intellectual disability, mild Recurrent pneumonia Pectus excavatum Eyelid coloboma Lumbar hyperlordosis Polymicrogyria Gastrointestinal hemorrhage Ascites Short distal phalanx of finger Aplasia of the ulna Leukemia Cirrhosis Pulmonic stenosis EEG abnormality Triangular mouth Esotropia Bilateral renal agenesis Osteopenia Abnormal cardiac septum morphology Convex nasal ridge Nail dysplasia Hypoplastic left heart Hydranencephaly Wrist flexion contracture Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Narrow naris Aplasia cutis congenita Aplasia/Hypoplasia of the skin Cortical dysplasia Cutis marmorata Accessory spleen Portal hypertension Craniofacial dysostosis Bicuspid aortic valve Leukopenia Aortic valve stenosis Telangiectasia Pachygyria Small nail Pulmonary arterial hypertension Coarctation of aorta Hemiparesis Aplasia/Hypoplasia involving bones of the thorax Talipes equinovalgus Absent septum pellucidum Hyperechogenic kidneys Abnormal corpus callosum morphology Abnormality of the basal ganglia Tetraphocomelia Colpocephaly Redundant neck skin Dilation of lateral ventricles Chronic lung disease Enlarged cisterna magna Enlarged labia minora Abnormality of the optic disc Molar tooth sign on MRI Thoracic hypoplasia Overfolded helix Cone-shaped epiphysis Increased intracranial pressure Tachypnea Oculomotor apraxia Cerebellar vermis hypoplasia Wide intermamillary distance Midface capillary hemangioma Recurrent aspiration pneumonia Duane anomaly Absent earlobe Open operculum Hypertonia Frontal encephalocele Hypertension Abnormality of the lower limb Abnormality of the 5th metacarpal Twelfth rib hypoplasia Intermittent thrombocytopenia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Subretinal deposits Renal cortical cysts Small cervical vertebral bodies Bilateral radial aplasia Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Dysgenesis of the cerebellar vermis Abnormality of the acetabulum Proximal femoral metaphyseal irregularity Elongated superior cerebellar peduncle Short digit Arteriovenous malformation Periventricular leukomalacia Hypoplastic fingernail Preaxial polydactyly Preaxial foot polydactyly Short columella Lipoma Partial agenesis of the corpus callosum Eosinophilia Multiple lipomas Adrenal insufficiency Polycystic kidney dysplasia Anophthalmia Retinal dystrophy Melanoma Easy fatigability Scrotal hypoplasia Joint contracture of the hand Lymphedema Long eyelashes Abnormality of the face Heterotopia Fine hair Growth hormone deficiency Conical tooth Alopecia totalis Postural instability Frontal cutaneous lipoma Paralysis Postnatal growth retardation Blue sclerae Glaucoma Cafe-au-lait spot Anterior basal encephalocele Elbow flexion contracture Midline facial cleft Horseshoe kidney Morning glory anomaly Broad philtrum Knee flexion contracture Scleral staphyloma Widely-spaced maxillary central incisors Absent tibia Median cleft palate Parietal foramina Broad columella Opacification of the corneal stroma Cranial nerve paralysis Agenesis of cerebellar vermis Broad nasal tip Hypotrichosis Phocomelia Abnormal pulmonary valve morphology Bicornuate uterus Subvalvular aortic stenosis Imperforate hymen Periventricular cysts Long penis Cutis marmorata telangiectatica congenita Biliary tract abnormality Absent toe Hand oligodactyly Venous malformation Acrania Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Corneal opacity Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Bilateral cleft lip and palate Low hanging columella Camptodactyly Fibular hypoplasia Intellectual disability, moderate Hypothyroidism Micropenis Clitoral hypertrophy Bilateral talipes equinovarus Anonychia Short femoral neck Cystic hygroma Upslanted palpebral fissure Absent radius Aplasia cutis congenita over posterior parietal area Hypogonadism Ankle contracture Severe intrauterine growth retardation Long philtrum Shallow orbits Anteverted nares Motor delay Upper limb undergrowth Aplasia cutis congenita on trunk or limbs Bilateral cleft lip Abnormal cerebellum morphology Pneumonia Apnea Abnormality of digit Broad hallux phalanx Woolly hair Fragile nails Down-sloping shoulders Abnormality of the clavicle Thickened nuchal skin fold Sprengel anomaly Shawl scrotum Curly hair Broad hallux Aplasia/Hypoplasia of the nipples Bilateral cryptorchidism Pterygium Sandal gap Plagiocephaly Exotropia Broad thumb Low posterior hairline Congenital diaphragmatic hernia Webbed neck Facial asymmetry Ridged nail Abnormality of the rib cage Wide mouth Duplication of the distal phalanx of the thumb Bifid uvula High, narrow palate Pulmonary hypoplasia Anal atresia Abnormality of eye movement Cerebral cortical atrophy Cerebral atrophy Hypoplastic nasal tip Split nail Hemihypotrophy of lower limb Unilateral breast hypoplasia Anterior plagiocephaly Therapeutic abortion Axillary pterygium Congenital pseudoarthrosis of the clavicle Craniofacial asymmetry Ridged fingernail Decreased hip abduction Midline defect of the nose Broad finger Abnormality of hair texture Breast hypoplasia Pectus carinatum Joint laxity Ambiguous genitalia Flat face Short thorax Flared metaphysis Abnormality of neuronal migration Metaphyseal irregularity Redundant skin Holoprosencephaly Acanthosis nigricans Abnormality of the metaphysis Decreased fetal movement Limitation of joint mobility Platyspondyly Hypoplastic ilia Kyphosis Respiratory insufficiency Basal encephalocele Midline nasal groove Congenital conductive hearing impairment Dermoid cyst Bifid tongue Hypopituitarism Aplasia/Hypoplasia of the corpus callosum Iris coloboma Aplasia/Hypoplasia of the lungs Small face Umbilical hernia Upper eyelid coloboma High forehead Prominent forehead Clinodactyly of the 5th finger Hernia Abnormality of the dentition Sensorineural hearing impairment Aplasia/Hypoplasia of the frontal sinuses Hypoplasia of the frontal bone Prominent glabella Caudal appendage Wide nasal base Cloverleaf skull Absent eyebrow Sparse eyebrow Sparse eyelashes Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Severe short-limb dwarfism Increased nuchal translucency Specific learning disability Choanal atresia Elevated hepatic transaminase Rhizomelia Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Hyperkinesis Drooling Absence seizures Muscle stiffness Aspiration Sinusitis Otitis media Flat occiput Short metacarpal Generalized myoclonic seizures Abdominal distention Inability to walk Nausea Poor speech Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Anxiety Clubbing Spondyloepiphyseal dysplasia Macrotia Aplasia/Hypoplasia of the ulna Visual loss Absent speech Renal insufficiency Myopia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Fibular aplasia Tibial bowing Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Radial bowing Loss of speech Short humerus Atonic seizures Progressive spasticity Deeply set eye Mandibular prognathia Bowing of the long bones Primary adrenal insufficiency Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Accessory oral frenulum Abnormal oral mucosa morphology Subcortical cerebral atrophy Abnormality of the tongue Rectovaginal fistula Short tibia Foot polydactyly Submucous cleft hard palate Tongue nodules Hamartoma Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Preaxial hand polydactyly Genu varum Laryngomalacia Renal hypoplasia/aplasia Hepatic fibrosis Hamartoma of tongue Aplasia/Hypoplasia of the tibia Autism Delayed speech and language development Weight loss Respiratory failure Abdominal pain Constipation Depressivity Recurrent infections Vomiting Respiratory distress Gait disturbance Hyperreflexia Spasticity Perineal fistula Pain Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Premature separation of centromeric heterochromatin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and High myopia, related diseases and genetic alterations Ventricular septal defect and Respiratory distress, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more