Brachydactyly, and Facial palsy
Diseases related with Brachydactyly and Facial palsy
In the following list you will find some of the most common rare diseases related to Brachydactyly and Facial palsy that can help you solving undiagnosed cases.
Top matches:
Low match MOEBIUS SYNDROME
Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia
Related symptoms:
- Hearing impairment
- Micrognathia
- Strabismus
- Muscular hypotonia
- Cleft palate
More info about MOEBIUS SYNDROME
Low match CAREY-FINEMAN-ZITER SYNDROME
Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about CAREY-FINEMAN-ZITER SYNDROMELow match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
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Other less relevant matches:
Low match BASAL CELL NEVUS SYNDROME; BCNS
BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
Related symptoms:
- Intellectual disability
- Hearing impairment
- Microcephaly
- Scoliosis
- Ataxia
More info about BASAL CELL NEVUS SYNDROME; BCNS
Low match CHARGE SYNDROME
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about CHARGE SYNDROMELow 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
More info about ROBERTS SYNDROME; RBS
Low match COWDEN SYNDROME
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about COWDEN SYNDROMELow match FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).
Related symptoms:
- Short stature
- Neoplasm
- Anemia
- Thrombocytopenia
- Polydactyly
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
Low match 1P36 DELETION SYNDROME
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about 1P36 DELETION SYNDROMELow match SCLEROSTEOSIS 2; SOST2
Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).
Related symptoms:
- Hearing impairment
- Hypertelorism
- Macrocephaly
- Gait disturbance
- Frontal bossing
More info about SCLEROSTEOSIS 2; SOST2
Top 5 symptoms//phenotypes associated to Brachydactyly and Facial palsy
| Symptoms // Phenotype | % cases |
|---|---|
| Micrognathia | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Cleft palate | Common - Between 50% and 80% cases |
| Intellectual disability | 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 Facial palsy. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Hearing impairment
Uncommon Symptoms - Between 30% and 50% cases
Global developmental delay
Common Symptoms - More than 50% cases
Hydrocephalus
Uncommon Symptoms - Between 30% and 50% cases
Cryptorchidism
Common Symptoms - More than 50% cases
Cranial nerve paralysis
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis
Common Symptoms - More than 50% cases
Downslanted palpebral fissures
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly
Common Symptoms - More than 50% cases
High palate
Uncommon Symptoms - Between 30% and 50% cases
Frontal bossing Generalized hypotonia Strabismus Muscular hypotonia Syndactyly Growth delay Macrocephaly Atrial septal defect Failure to thrive Epicanthus Hypospadias Autism Mandibular prognathia Retrognathia Cataract Abnormality of the skeletal system Talipes equinovarus Motor delay Coloboma Cleft upper lip Dysphagia Seizures Sensorineural hearing impairment Kyphosis Relative macrocephaly Talipes Gastroesophageal reflux Abnormal cardiac septum morphology Paralysis Hydronephrosis Neoplasm Prominent forehead Malar flattening Abnormality of the kidney Low-set ears Hand polydactyly Hypothyroidism Narrow mouth Patent ductus arteriosus Midface retrusion Ventricular septal defect Hypogonadism Abnormality of the ribs Cleft lip Microphthalmia Wide nasal bridge Increased intracranial pressure Sparse hair Proptosis Polyhydramnios Brachycephaly Hypogonadotrophic hypogonadism Anteverted nares Muscle weakness Skeletal muscle atrophy Ptosis Depressed nasal bridge Feeding difficulties Ventriculomegaly Clinodactyly of the 5th finger Myopathy Long philtrum Feeding difficulties in infancy
Rare Symptoms - Less than 30% cases
Optic atrophy Abnormality of the neck Immunodeficiency Exotropia Hemivertebrae Neoplasm of the skin Down-sloping shoulders Skin tags Gait disturbance Astrocytoma Behavioral abnormality Hamartomatous polyposis Fibroma Ovarian carcinoma Bifid ribs Ophthalmoplegia Nystagmus Absent speech Palmoplantar keratoderma Multiple cafe-au-lait spots Delayed cranial suture closure External genital hypoplasia Absent septum pellucidum Anteriorly placed anus Submucous cleft hard palate Choanal stenosis Abnormality of the penis Ataxia Pain Mask-like facies Iris coloboma Pectus excavatum Visual loss Tetraparesis Glaucoma Polydactyly EEG abnormality Carcinoma Reduced number of teeth Papule Oral cleft Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Corneal opacity Thrombocytopenia Polymicrogyria Narrow naris Leukemia Aortic arch aneurysm Myopia Delayed speech and language development Cognitive impairment Visual impairment Clinodactyly Telangiectasia Posteriorly rotated ears Renal cyst Cafe-au-lait spot Biliary tract abnormality Melanoma Long penis Clitoral hypertrophy Cystic hygroma Overgrowth Eyelid coloboma Micropenis Facial asymmetry Finger syndactyly Conductive hearing impairment Hyperostosis Abnormality of the eye Postnatal growth retardation Abnormality of the pinna Microtia Prominent nasal bridge Renal agenesis Macule Tetralogy of Fallot Small nail Abnormality of the genital system Short thumb Lymphopenia Horseshoe kidney Abnormality of vision Acute myeloid leukemia Absent radius Cutis marmorata Melanocytic nevus Aplasia/Hypoplasia of the tongue Bilateral talipes equinovarus Cerebral cortical atrophy Abnormality of the sense of smell Plagiocephaly Elbow flexion contracture Carious teeth Kyphoscoliosis Aplasia/Hypoplasia of the cerebellum Intellectual disability, moderate Cerebral calcification Large fontanelles Choanal atresia Hip dysplasia Bifid uvula Macroglossia Delayed eruption of teeth Aplasia of the pectoralis major muscle Heterotopia Microglossia Knee flexion contracture Short neck Respiratory insufficiency Delayed skeletal maturation Flexion contracture Pneumonia Agenesis of corpus callosum Hernia Intrauterine growth retardation Abnormal facial shape Abnormality of the dentition Intellectual disability, mild Cutaneous syndactyly Abnormality of the metacarpal bones Hydrocele testis Meningioma Abnormality of the optic disc Expressive language delay Arteriovenous malformation Megalencephaly Abnormality of brain morphology Abnormal renal physiology Prolactin excess Abnormality of the uterus Papilledema Abnormality of the vasculature Progressive macrocephaly Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Furrowed tongue Bone cyst Abnormality of the anus Neoplasm of the central nervous system Varicocele Abnormality of chromosome stability Thyroid adenoma Cavum septum pellucidum Intestinal polyp Angioid streaks of the fundus Periventricular leukomalacia Follicular thyroid carcinoma Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Abnormal corpus callosum morphology Ovarian cyst Generalized hyperkeratosis Impaired social interactions Endometrial carcinoma Papilloma Enlarged polycystic ovaries Colorectal polyposis Abnormality of female external genitalia Cavernous hemangioma Abnormality of the mandible Cellular immunodeficiency Gastric ulcer Abnormal left ventricle morphology Intestinal polyposis Lambdoidal craniosynostosis Palmoplantar hyperkeratosis Annular pancreas Bilateral renal agenesis Premature separation of centromeric heterochromatin Midface capillary hemangioma Enlarged labia minora Tetraphocomelia Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Absent earlobe Talipes equinovalgus Noncompaction cardiomyopathy Asymmetry of the ears Aplasia of the ulna Oppositional defiant disorder Triangular mouth Abnormality of the hairline Congenital talipes calcaneovalgus Widened subarachnoid space Bilateral cleft lip Low hanging columella Bilateral cleft lip and palate Bicornuate uterus Ebstein anomaly of the tricuspid valve Subvalvular aortic stenosis Bilobate gallbladder Accessory spleen Hypoplastic female external genitalia Hand oligodactyly Phocomelia Hydranencephaly Wrist flexion contracture Craniofacial dysostosis Cranial nerve VI palsy Tremor Cellulitis Horizontal eyebrow Multiple lipomas Abnormality of the thyroid gland Muscle flaccidity Intracranial hemorrhage Dysdiadochokinesis Incoordination Hypoplastic labia minora Goiter Breast carcinoma Hypopigmented skin patches Hemangioma Drooling Gynecomastia Chronic diarrhea Subcutaneous nodule Diarrhea Joint hypermobility Headache Abnormal social behavior Dilatation Recurrent infections Proximal muscle weakness Nausea and vomiting Talipes valgus Broad thumb Hypoplasia of the maxilla Abnormal cerebellum morphology Lymphoma Decreased antibody level in blood Abnormal external genitalia Intention tremor Pseudopapilledema Hiatus hernia Cutaneous finger syndactyly Abnormality of the renal pelvis Leukoencephalopathy Hypercholesterolemia Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Decreased body weight Pachygyria Mitral regurgitation Short 5th finger Missing ribs Aplasia/Hypoplasia of the corpus callosum 11 pairs of ribs Coarctation of aorta Gait ataxia Hypsarrhythmia Interphalangeal joint contracture of finger Abnormality of the testis Ventricular hypertrophy Shallow orbits Solitary renal cyst Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Agenesis of the anterior commissure Depressed nasal ridge Hypertrichosis Bicuspid aortic valve Sacral dimple Dilation of lateral ventricles Telangiectasia of the skin Self-mutilation Arnold-Chiari type I malformation Abnormality of the cerebral ventricles Overweight Epileptic spasms Abnormal lung lobation Foot polydactyly Spinal canal stenosis Coronal craniosynostosis Ocular albinism Aortic root aneurysm Congenital hypothyroidism Neuroblastoma Slender long bone Abnormality of the immune system Scrotal hypoplasia Congenital sensorineural hearing impairment Infantile muscular hypotonia Delayed gross motor development Pyloric stenosis Patent foramen ovale Failure to thrive in infancy Self-injurious behavior Hemiplegia/hemiparesis Abnormal heart valve morphology Metatarsus adductus Dysphasia Hypermelanotic macule Polyphagia High hypermetropia Infantile spasms Optic disc pallor Delayed CNS myelination Colpocephaly Merkel cell skin cancer Cerebral atrophy Cardiomyopathy Hypoplasia of the corpus callosum Rib fusion Duplication of thumb phalanx Refractory anemia Hyperplastic labia majora Myeloid leukemia Preaxial hand polydactyly Bone marrow hypocellularity Pancytopenia Anemia Lobular carcinoma in situ Multiple trichilemmomata Ductal carcinoma in situ Constipation Transitional cell carcinoma of the bladder Mucosal telangiectasiae Short finger Thickened helices Abnormal eyebrow morphology Nail dysplasia Acrokeratosis Neoplasm of the thyroid gland Conjunctival hamartoma Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Aplasia/Hypoplasia involving bones of the feet Obesity Delayed closure of the anterior fontanelle Volvulus Synophrys Hypoplasia of penis Redundant neck skin Abnormal blistering of the skin Epileptic encephalopathy Dental malocclusion Abnormality of the skin Intestinal malrotation Delayed myelination Brain atrophy Short foot Hepatic steatosis Left ventricular noncompaction Poor speech Abnormal parietal bone morphology Hypermetropia Pes cavus Joint stiffness Abnormality of the spleen Upslanted palpebral fissure Deeply set eye Neonatal hypotonia Aggressive behavior Camptodactyly Abnormality of the liver Abnormality of the femoral neck Blepharophimosis Camptodactyly of finger Neurological speech impairment Small for gestational age Dilated cardiomyopathy Abnormality of the cerebral white matter Upper limb undergrowth Laryngomalacia Severe intrauterine growth retardation Chordee Absent axillary hair Elbow ankylosis Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the middle phalanges of the hand Hyperconvex fingernails Cranial hyperostosis Sclerosis of skull base Delayed eruption of permanent teeth Abnormal nasolacrimal system morphology Lacrimal duct stenosis Humeroradial synostosis Epispadias Aplastic clavicle Diaphyseal thickening Nasolacrimal duct obstruction Broad clavicles Premature skin wrinkling Aplasia/Hypoplasia of the skin Thickened calvaria Prematurely aged appearance Osteopetrosis Abnormality of finger Progeroid facial appearance Hypoplastic fingernail Femoral hernia Broad ribs Prominent superficial veins Abnormal cortical bone morphology Symphalangism affecting the phalanges of the hand Generalized osteosclerosis Hyperextensibility of the finger joints Calvarial hyperostosis Proximal symphalangism Limited elbow extension Hypotension Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Spina bifida occulta Muscle stiffness Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Hemiparesis Nevus Proximal symphalangism of hands Spasticity Prominent scalp veins Facial hyperostosis Exodeviation Lumbar kyphoscoliosis Progressive sclerosis of skull base Stiff finger Dysarthria Postaxial polydactyly Abdominal pain Coarse facial features Proteinuria Telecanthus Hypotrichosis Arachnodactyly Reduced subcutaneous adipose tissue Flared metaphysis Vertebral fusion Hyperhidrosis Facial diplegia Pierre-Robin sequence Ankylosis Glossoptosis Hypoventilation Ulnar deviation of finger Restrictive ventilatory defect Hypoplasia of the brainstem Severe muscular hypotonia Abnormal lung morphology Decreased fetal movement Broad nasal tip Tapered finger Thin vermilion border Elevated serum creatine phosphokinase Flushing Aplasia/Hypoplasia of the radius Arthrogryposis multiplex congenita Everted lower lip vermilion Microdontia Open mouth Abnormality of the voice Aplasia/Hypoplasia of the thumb Blepharitis Short nose Abnormality of the ulna Breast aplasia Absent hand Aplasia/Hypoplasia involving the metacarpal bones Hypertension Respiratory distress Trismus Villous atrophy Short middle phalanx of finger Joint hyperflexibility Redundant skin Dermal atrophy Cutis laxa Abnormality of dental enamel Increased bone mineral density Short toe Hypoplasia of dental enamel Thin skin Abnormality of the metaphysis Specific learning disability Limitation of joint mobility High, narrow palate Thick vermilion border Short palm Broad forehead Abnormality of the larynx Hypertensive crisis Ulnar deviation of the hand Hypoplasia of the musculature Oculomotor nerve palsy Laryngeal stenosis Nocturnal hypoventilation Glandular hypospadias Impaired ocular abduction Wide mouth Congenital facial diplegia Pectoralis hypoplasia Inguinal hernia Severe short stature Macrotia Joint laxity Agenesis of permanent teeth Colitis Ankle contracture Abnormality of tibia morphology Abnormality of the cervical spine Arrhinencephaly Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Microphallus Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Gonadotropin deficiency Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Labial hypoplasia Hyposmia Abnormality of the thymus Double outlet right ventricle Broad palm Weak cry Abnormality of immune system physiology Anal stenosis Esophageal atresia External ear malformation Broad neck Tics Hypoplasia of the zygomatic bone Abnormal cranial nerve morphology Abnormally large globe Duodenal atresia Retinal coloboma Facial paralysis Lop ear Bilateral choanal atresia Vestibular dysfunction Short philtrum Fibular hypoplasia Oligodactyly Short femoral neck Anonychia Radial deviation of finger Polycystic kidney dysplasia Eosinophilia Opacification of the corneal stroma Recurrent urinary tract infections Encephalocele Blue sclerae Oligohydramnios Convex nasal ridge Underdeveloped nasal alae Craniosynostosis Abnormality of the adrenal glands Hand monodactyly Abnormality of bone mineral density Abnormal palmar dermatoglyphics Square face Abnormality of the inner ear Aplasia/Hypoplasia of the thymus Unilateral facial palsy Hypoplasia of the cochlea Skeletal dysplasia Bifid femur Abnormal soft palate morphology Parathyroid hypoplasia Hypoplasia of the semicircular canal Parachute mitral valve Posterior choanal atresia Mixed hearing impairment Hypoplasia of the ulna Abnormality of the sternum Severe hydrocephalus Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Abnormal heart morphology Broad face Thoracic scoliosis Sprengel anomaly Narrow nose Fragile nails Short 4th metacarpal Neoplasm of the endocrine system Ulcerative colitis Parietal bossing Brain neoplasm Medulloblastoma Ectopic calcification Supernumerary ribs Cervical ribs Vertebral wedging Blindness Respiratory failure Tracheoesophageal fistula Aspiration Bifid scrotum Anophthalmia Cupped ear Obsessive-compulsive behavior Chorioretinal coloboma Overfolded helix Abnormality of the urinary system Anosmia Abnormality of the outer ear Torticollis Holoprosencephaly Short chin Hypocalcemia Narrow face Preauricular skin tag Umbilical hernia Anal atresia Photophobia Apnea Attention deficit hyperactivity disorder Pectus carinatum Pulmonic stenosis Delayed puberty Highly arched eyebrow Renal dysplasia Vesicoureteral reflux Growth hormone deficiency Webbed neck Dandy-Walker malformation Renal hypoplasia Omphalocele Sclerotic vertebral endplates
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