Brachydactyly, and Dandy-Walker malformation

Diseases related with Brachydactyly and Dandy-Walker malformation

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


Top matches:

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Mendelian

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

Learn more

Other less relevant matches:

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Medium match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Medium 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

Medium match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

Medium 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Dandy-Walker malformation

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Long philtrum Short stature Agenesis of corpus callosum Posteriorly rotated ears Polydactyly Micrognathia Abnormal facial shape Cryptorchidism Syndactyly Postaxial polydactyly Abnormal heart morphology Growth delay Intrauterine growth retardation Ventricular septal defect Anteverted nares Preaxial foot polydactyly Absent speech Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Clinodactyly Hydrocephalus Hernia Preaxial polydactyly Wide intermamillary distance Cleft upper lip Downslanted palpebral fissures Abnormality of the skeletal system Meningocele Dilatation Clinodactyly of the 5th finger Postaxial hand polydactyly Preaxial hand polydactyly Median cleft lip Nystagmus Lobulated tongue Hamartoma of tongue Apnea Oral cleft Ataxia Cleft lip Inguinal hernia Macrocephaly Molar tooth sign on MRI Depressed nasal bridge Talipes equinovarus Esotropia Conductive hearing impairment Toe syndactyly Single transverse palmar crease Broad nasal tip Finger clinodactyly Ventriculomegaly Partial agenesis of the corpus callosum Micropenis High forehead Wide mouth Small nail Cataract Microcephaly Sensorineural hearing impairment Retrognathia Coarse facial features Feeding difficulties

Rare Symptoms - Less than 30% cases


Thin vermilion border Muscular hypotonia Hypospadias Tongue nodules Delayed speech and language development Accessory oral frenulum Coloboma Strabismus Pancreatic cysts Abnormality of cardiovascular system morphology Omphalocele Short ribs Foot polydactyly Milia Myopia Cone-shaped epiphysis Severe global developmental delay Hand polydactyly Patent ductus arteriosus Arachnoid cyst Short nose Motor delay Umbilical hernia Occipital encephalocele Tapered finger Short foot Preauricular skin tag Thick vermilion border Short philtrum Diabetes insipidus Narrow palpebral fissure Aggressive behavior Abnormality of the pinna Cerebellar hypoplasia Intellectual disability, moderate Talipes Gastroesophageal reflux Hyperactivity Prominent forehead Hypothyroidism Retinal dystrophy Midface retrusion Atrial septal defect Scoliosis Anophthalmia Short toe Tachypnea Microretrognathia Abnormality of the nervous system Abnormal cardiac septum morphology Radial deviation of finger Cystic renal dysplasia Short neck Prominent nasal bridge Infantile spasms Bifid uvula Smooth philtrum Aplasia/Hypoplasia of the corpus callosum Tremor Oculomotor apraxia Renal dysplasia Cerebellar vermis hypoplasia Renal agenesis Abnormal cerebellum morphology Long face Wide nose Intellectual disability, severe Short distal phalanx of finger Bulbous nose Hypertension Recurrent respiratory infections Abnormality of the dentition Anencephaly Abnormality of the face Optic atrophy Underdeveloped nasal alae Sparse hair Telecanthus Hypertonia Finger syndactyly Elevated hepatic transaminase Alopecia Polyhydramnios Cerebral atrophy Overfolded helix Renal insufficiency Respiratory distress Redundant neck skin Chronic lung disease Long clavicles Recurrent aspiration pneumonia Dilation of lateral ventricles Elongated superior cerebellar peduncle Abnormality of the optic disc Hyperechogenic kidneys Duane anomaly Abnormal corpus callosum morphology Renal cortical cysts Abnormality of the basal ganglia Short digit Colpocephaly Widow's peak Central Y-shaped metacarpal Enlarged cisterna magna Short femur Feeding difficulties in infancy Highly arched eyebrow Apraxia Renal hypoplasia/aplasia Polycystic kidney dysplasia Trigonocephaly Bilateral cryptorchidism Abnormality of neuronal migration Midline facial cleft Abnormal retinal morphology Tibial bowing Biparietal narrowing Hamartoma Pectoral muscle hypoplasia/aplasia Abnormal oral frenulum morphology Bell-shaped thorax Midline notch of upper alveolar ridge Absent septum pellucidum Thoracic hypoplasia Frontal cutaneous lipoma Supernumerary nipple Increased intracranial pressure Visual loss Y-shaped metacarpals Mesoaxial polydactyly Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Proximal femoral metaphyseal irregularity Postnatal growth retardation Lipoma of corpus callosum Upslanted palpebral fissure Alopecia totalis Hypoplasia of the maxilla Postural instability Hypotrichosis Craniosynostosis Camptodactyly Brachycephaly Hypogonadism Bifid nasal tip Microphthalmia Intellectual disability, mild Ptosis Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Growth hormone deficiency Conical tooth Duplication of phalanx of hallux Scrotal hypoplasia Short columella Coronal craniosynostosis Lipoma Facial cleft Multiple lipomas Adrenal insufficiency Easy fatigability Joint contracture of the hand Decreased testicular size Lymphedema Long eyelashes Heterotopia Abnormality of the genital system Encephalocele Fine hair Oligohydramnios Tetralogy of Fallot Broad philtrum Cerebral hypoplasia Abnormality of the acetabulum Open operculum Calvarial skull defect Scleral staphyloma Aplasia/Hypoplasia involving bones of the thorax Abnormality of the 5th metacarpal Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Subretinal deposits Anal atresia Morning glory anomaly Cranium bifidum occultum Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Dysgenesis of the cerebellar vermis Broad forehead Open mouth Abnormal pulmonary valve morphology Postaxial foot polydactyly Triangular mouth Hypopigmentation of the fundus Hypoplasia of teeth Agenesis of cerebellar vermis Bifid nose Diastasis recti Broad columella Parietal foramina Widely-spaced maxillary central incisors Abnormality of digit External genital hypoplasia Median cleft palate Prominent occiput Absent tibia Spontaneous abortion Hypoplastic frontal sinuses Wide anterior fontanel Rectovaginal fistula Long fingers Abnormality of the kidney Abnormality of dental enamel Tarsal synostosis Open bite Chronic otitis media Brittle hair Coarse hair Reduced bone mineral density Multicystic kidney dysplasia Abnormality of the skull Choanal atresia Hypodontia Dry skin Facial asymmetry Proteinuria Hydronephrosis Dystonia Exocrine pancreatic insufficiency Hypoplasia of the zygomatic bone Prominent nasal tip Anxiety Sparse scalp hair Thick lower lip vermilion Hip dysplasia Delayed eruption of teeth Small hand High, narrow palate Attention deficit hyperactivity disorder Thin upper lip vermilion Abnormality of the pancreas Kyphoscoliosis Constipation Pectus excavatum Odontogenic neoplasm Lip pit Broad alveolar ridges Deviation of finger Profound sensorineural hearing impairment Hypoplasia of the iris Wormian bones Lissencephaly Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Short chin Blindness Left ventricular hypertrophy Ventricular hypertrophy Delayed myelination Macroglossia Hypertrophic cardiomyopathy Obesity Cardiomyopathy Peripheral neuropathy Hyporeflexia Severe sensorineural hearing impairment Bilateral sensorineural hearing impairment Anonychia Triphalangeal thumb Abnormal dermatoglyphics Abnormality of the fingernails Short phalanx of finger Hypsarrhythmia High myopia Abnormality of the skin Neonatal hypotonia Nail dysplasia Prominent nose Polyneuropathy Everted lower lip vermilion Downturned corners of mouth Nail dystrophy Respiratory tract infection Stereotypy Plagiocephaly Gait disturbance Short long bone Broad palm Short finger Short thorax Bowing of the legs Metaphyseal irregularity Patent foramen ovale Disproportionate short-limb short stature Hypoplastic nipples Holoprosencephaly Bilateral single transverse palmar creases Renal hypoplasia Ambiguous genitalia Limb undergrowth Intestinal malrotation Ascites Natal tooth Protuberant abdomen Short palm Accessory spleen Fever Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Horizontal ribs Broad foot Median cleft lip and palate Atelectasis Bifid tongue Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Microglossia Renal cyst Pulmonary hypoplasia Deep philtrum Congestive heart failure Narrow forehead Hypopigmentation of the skin Ichthyosis Muscular hypotonia of the trunk Deeply set eye Skeletal dysplasia Cerebral cortical atrophy Testicular torsion Sacral dimple Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead High anterior hairline Short middle phalanx of finger Abnormality of the hand Aortic valve stenosis Self-injurious behavior Flat face Spotty hypopigmentation Narrow chest Splenomegaly Edema Respiratory insufficiency Hepatomegaly Olivopontocerebellar hypoplasia Hypoplastic aortic arch Long neck 2-3 toe syndactyly Otosclerosis Overlapping fingers Narrow nose Epiphyseal stippling Broad hallux Ectopic kidney Overlapping toe Anterior basal encephalocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Upslanted palpebral fissure, related diseases and genetic alterations Fever and Urinary incontinence, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more