Brachydactyly, and Webbed neck

Diseases related with Brachydactyly and Webbed neck

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


Top matches:

Medium 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

Medium match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

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Other less relevant matches:

Medium match DUANE RETRACTION SYNDROME


Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

DUANE RETRACTION SYNDROME Is also known as stilling-turk-duane syndrome|duane syndrome|durs|drs

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME

Medium 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

Medium match KBG SYNDROME


KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Medium match CHIME SYNDROME


CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Webbed neck

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Ptosis

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Pectus excavatum

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Brachycephaly Cleft palate Seizures Low posterior hairline High palate Abnormal heart morphology Depressed nasal bridge Wide mouth Clinodactyly of the 5th finger Atrial septal defect Abnormal facial shape Syndactyly Sensorineural hearing impairment Scoliosis Hernia Patent foramen ovale Growth delay Generalized hypotonia Short nose Long philtrum Patent ductus arteriosus Upslanted palpebral fissure Feeding difficulties Protruding ear Nystagmus Wide intermamillary distance Prominent forehead Umbilical hernia Craniosynostosis Muscular hypotonia Pulmonic stenosis Postnatal growth retardation Cataract Sparse hair High forehead Hydronephrosis Thin vermilion border Hypotrichosis Iris coloboma Single transverse palmar crease Facial asymmetry Plagiocephaly Downslanted palpebral fissures Ventriculomegaly Abnormality of the dentition Low-set, posteriorly rotated ears Thin upper lip vermilion Telecanthus Macrocephaly Abnormality of the skeletal system Broad thumb Camptodactyly Pectus carinatum Cleft lip Finger syndactyly Toe syndactyly Midface retrusion

Rare Symptoms - Less than 30% cases


Arnold-Chiari malformation Microcornea Peripheral pulmonary artery stenosis Hypoplastic toenails Overfolded helix Cerebral atrophy Cerebral cortical atrophy Retinal coloboma Conductive hearing impairment Short palpebral fissure Macrotia Thickened helices Autism Aplasia/Hypoplasia of the thumb Hyperactivity Deep philtrum Abnormal dermatoglyphics Constipation Delayed skeletal maturation Wide anterior fontanel Leukemia Dental malocclusion Loose anagen hair Agenesis of corpus callosum Smooth philtrum Kyphosis Joint laxity Short metacarpal Round face Optic disc hypoplasia Radial deviation of finger Triangular face Broad neck Stenosis of the external auditory canal Arnold-Chiari type I malformation Cleft upper lip Amblyopia Abnormality of the pulmonary artery Attention deficit hyperactivity disorder Depressed nasal ridge Failure to thrive in infancy Superior pectus carinatum Pterygium Spina bifida occulta Preauricular skin tag Hypospadias Corneal opacity Hypertrophic cardiomyopathy Everted lower lip vermilion Intellectual disability, mild Shawl scrotum Kyphoscoliosis Retrognathia Hydrocephalus Fragile nails Myopia Thick lower lip vermilion Ventricular hypertrophy Coarctation of aorta Hypoplastic nipples Polydactyly Cutaneous finger syndactyly Transposition of the great arteries Aplasia/Hypoplasia of the nipples Supernumerary nipple Bilateral cryptorchidism Trigonocephaly Abnormal cardiac septum morphology High, narrow palate Polyhydramnios Micropenis Short foot Cognitive impairment Dilatation Thick eyebrow Cardiomyopathy Vomiting Dolichocephaly Hip dislocation Broad forehead Prominent nasal bridge Coloboma Posteriorly rotated ears Ichthyosis Hypothyroidism Delayed speech and language development Proptosis Short palm Talipes equinovarus Gastroesophageal reflux Intrauterine growth retardation Hypoplasia of the corpus callosum Intellectual disability, severe Broad fingertip Splenomegaly Congestive heart failure Edema Abnormality of the nasal bridge Dermal translucency Abnormal location of ears Neoplasm Pain Abnormality of the intervertebral disk Fever Increased intracranial pressure Slow-growing hair Thin skin Abnormality of the fingernails Low-set nipples Hypocalcemia Failure to thrive Hoarse voice Hyperpigmentation of the skin Cafe-au-lait spot Mitral regurgitation Infantile muscular hypotonia Sparse scalp hair Eczema Cyanosis Dandy-Walker malformation Growth hormone deficiency Joint hypermobility Carious teeth Hypoglycemia Abnormal palate morphology Aplasia/Hypoplasia of the phalanges of the toes Abnormality of refraction Natal tooth Redundant neck skin Abnormality of the testis Enlarged cisterna magna Abnormally large globe Hypomagnesemia Hiatus hernia Abnormality of the elbow Atopic dermatitis Freckling Optic nerve hypoplasia Neurodevelopmental delay Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Right bundle branch block Nasal speech Relative macrocephaly Violent behavior Coarse hair Headache Panuveitis Thrombocytopenia Short toe Proximal placement of thumb Short metatarsal Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Sacral dimple Intellectual disability, progressive Hemivertebrae Multicystic kidney dysplasia Rhizomelia Blurred vision Decreased body weight Decreased fetal movement Limb undergrowth Brain atrophy Micromelia Anal atresia Abnormality of the pinna Feeding difficulties in infancy Glaucoma Severe short stature Preauricular pit Hypoplasia of the uterus Inguinal hernia Birth length less than 3rd percentile Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Intestinal fistula Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Exaggerated cupid's bow Short columella Mesomelic short stature Rieger anomaly Clitoral hypoplasia Limited elbow movement Biliary tract abnormality Ureteral duplication Peters anomaly Anterior hypopituitarism Communicating hydrocephalus Hypoplastic labia majora Diastasis recti Pes cavus Optic atrophy Rod-cone dystrophy Bicuspid aortic valve Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Cubitus valgus Myelodysplasia Elevated alkaline phosphatase Poor suck Azoospermia Neuroblastoma Lymphedema Left ventricular hypertrophy Clumsiness Primary amenorrhea Amenorrhea Abnormal bleeding Abdominal distention Bruising susceptibility Abdominal pain Hypogonadism Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Visual impairment Amegakaryocytic thrombocytopenia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Aplasia/Hypoplasia of the phalanges of the hand Neurofibrosarcoma Reduced factor XII activity Hypoplastic aortic arch Gonadal dysgenesis Lymphangioma Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Pulmonary valve atresia Hypoplasia of dental enamel Clubbing of toes Preaxial hand polydactyly Oculomotor nerve palsy Abnormal pupil morphology Blepharospasm External ear malformation Aniridia Irregular hyperpigmentation Absent radius Ectopic kidney Congenital sensorineural hearing impairment Abnormal vertebral segmentation and fusion Chorioretinal coloboma Triphalangeal thumb Hypoplasia of the radius Hypopigmented skin patches Abnormal form of the vertebral bodies Abnormality of eye movement Blepharophimosis Deeply set eye Skeletal muscle atrophy Anorectal anomaly Hypoplastic iris stroma Anteverted ears Congenital diaphragmatic hernia Curly hair Abnormality of digit Broad hallux Hand polydactyly Sandal gap Exotropia Encephalocele Interphalangeal joint contracture of finger Wide nose Narrow internal auditory canal Oral cleft Joint hyperflexibility Camptodactyly of finger Hyperlordosis Patchy hypopigmentation of hair Palpebral fissure narrowing on adduction Central heterochromia Impaired ocular abduction Impaired ocular adduction Leukocoria Retinoblastoma Thickened nuchal skin fold Hypoplastic right heart Narrow palate Situs inversus totalis Sparse and thin eyebrow Postaxial hand polydactyly Highly arched eyebrow Postaxial polydactyly Genu valgum Obesity Pulmonary artery atresia Cutis laxa Anteriorly placed anus Agenesis of permanent teeth Mesomelia Tricuspid regurgitation Gingival overgrowth Short phalanx of finger Long eyelashes Blue sclerae Downturned corners of mouth Coxa vara Preaxial polydactyly Abnormality of the gastrointestinal tract Aplasia of the middle phalanx of the hand Absent septum pellucidum Holoprosencephaly Finger clinodactyly Open mouth Hypotelorism Bulbous nose Muscular hypotonia of the trunk Microphthalmia Abnormal reproductive system morphology Narrow naris Dextrocardia Diaphragmatic eventration Abnormal cornea morphology Oxycephaly Cloverleaf skull Preaxial foot polydactyly Polysplenia Abnormality of the skull Turricephaly External genital hypoplasia Sprengel anomaly Abnormality of the clavicle Duplicated collecting system Erythema Fine hair Tetralogy of Fallot Microdontia Ectodermal dysplasia Bifid uvula Hypodontia Thick vermilion border Short philtrum Abnormality of the kidney Tall stature Abnormality of the nervous system Hyperkeratosis Vertebral arch anomaly Widely-spaced maxillary central incisors Cervical ribs Macrodontia Recurrent ear infections Rib fusion Broad face Broad-based gait Abnormality of epiphysis morphology Chronic constipation Abnormality of dental morphology Aplastic clavicle Ureteropelvic junction obstruction Long foot Acute leukemia Acute lymphoblastic leukemia Increased number of teeth Decreased fertility Large for gestational age Keratitis Large hands Joint contracture of the hand Erythroderma Brittle hair Growth abnormality Recurrent skin infections Palmoplantar hyperkeratosis Abnormality of the outer ear Widely spaced teeth Osteolysis Skin ulcer Beaking of vertebral bodies Thoracic kyphosis Coronal craniosynostosis Broad finger Unilateral breast hypoplasia Therapeutic abortion Axillary pterygium Congenital pseudoarthrosis of the clavicle Craniofacial asymmetry Ridged fingernail Decreased hip abduction Midline defect of the nose Abnormality of hair texture Hemihypotrophy of lower limb Breast hypoplasia Anterior plagiocephaly Abnormality of the rib cage Bifid nasal tip Ridged nail Broad hallux phalanx Widow's peak Woolly hair Down-sloping shoulders Duplication of the distal phalanx of the thumb Split nail Megalocornea Abnormal vertebral morphology Long palpebral fissure Vertebral fusion Mixed hearing impairment Short femoral neck Flat occiput Abnormality of the hand Short long bone Oligodontia Low anterior hairline Hip dysplasia Hypoplastic nasal tip Otitis media Underdeveloped nasal alae Synophrys Neurological speech impairment Autistic behavior Intellectual disability, moderate Aggressive behavior Anxiety Skeletal dysplasia Microtia, second degree



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