Brachydactyly, and Coloboma

Diseases related with Brachydactyly and Coloboma

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


Top matches:

Low match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

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Other less relevant matches:

Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

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 SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Low match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Low match TORIELLO-LACASSIE-DROSTE SYNDROME


Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

TORIELLO-LACASSIE-DROSTE SYNDROME Is also known as oculoectodermal syndrome|aplasia cutis congenita with epibulbar dermoids|aplasia cutis congenita-epibulbar dermoids syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TORIELLO-LACASSIE-DROSTE SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Coloboma

Symptoms // Phenotype % cases
Iris coloboma Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Epicanthus 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 Coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Abnormal facial shape Hearing impairment Seizures Global developmental delay Cleft palate Low-set ears Telecanthus Abnormality of cardiovascular system morphology Scoliosis Cryptorchidism Growth delay Cataract Brachycephaly Astigmatism Feeding difficulties Hyperactivity Microcephaly Wide nasal bridge Anteverted nares Short nose Microphthalmia Midface retrusion Macrotia Depressed nasal bridge Protruding ear Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Toe syndactyly Short philtrum Generalized hypotonia Abnormality of nervous system morphology Myopia Open mouth Downturned corners of mouth Low-set, posteriorly rotated ears Cone/cone-rod dystrophy Ptosis Malar flattening Hypospadias Facial asymmetry Failure to thrive Camptodactyly of finger Short toe Fibroma Muscular hypotonia Neoplasm Mandibular prognathia Autism Hypoplasia of the corpus callosum Short palm Nystagmus Broad forehead Macrocephaly Frontal bossing Hydrocephalus Agenesis of corpus callosum Dental malocclusion Upslanted palpebral fissure Parietal bossing Thin upper lip vermilion High palate Cupped ribs Short chin Metaphyseal cupping Everted lower lip vermilion Short foot Generalized myoclonic seizures Febrile seizures Convex nasal ridge Epileptic encephalopathy Spondylometaphyseal dysplasia Broad-based gait Heterotopia Stereotypy Absence seizures Thick eyebrow Plagiocephaly Optic nerve hypoplasia Tented upper lip vermilion Cupped ear Infantile spasms Poor eye contact Abnormality of the periventricular white matter Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Inability to walk Generalized tonic-clonic seizures Large central visual field defect Narrow greater sacrosciatic notches Tibial torsion Hypoplastic inferior ilia Oral cleft Smooth philtrum Severe platyspondyly Delayed speech and language development Cleft lip Motor delay Downslanted palpebral fissures Ventriculomegaly Retinal thinning Intellectual disability, severe Cone dysfunction syndrome Dilatation Absent speech Encephalopathy Myoclonus Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Happy demeanor EEG abnormality Deeply set eye Autistic behavior Attention deficit hyperactivity disorder High forehead Frontal cortical atrophy Hemiclonic seizures Abnormality of the ureter Abnormality of the cardiovascular system Coarctation of aorta Short palpebral fissure Aganglionic megacolon Hyperpigmentation of the skin Lymphedema Opacification of the corneal stroma Abnormality of the ear Multiple lipomas Aplasia/Hypoplasia of the skin Absent septum pellucidum Hamartoma Generalized hyperpigmentation Aplasia cutis congenita Arachnoid cyst Stroke Transient ischemic attack Eyelid coloboma Lower limb asymmetry Epispadias Bladder exstrophy Epibulbar dermoid Abnormality of the penis Abnormality of the bladder Epidermal nevus Laryngeal hypoplasia Exstrophy Abnormal conjunctiva morphology Gastrointestinal atresia Anisometropia Nevus Blepharophimosis Optic nerve coloboma Broad nasal tip Periventricular white matter hyperdensities Optic atrophy Short neck Blindness Behavioral abnormality Cerebral atrophy Hernia Constipation Rod-cone dystrophy Posteriorly rotated ears Narrow mouth Gastroesophageal reflux Joint laxity Hypermetropia Delayed myelination Polyhydramnios Focal-onset seizure Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Cerebral visual impairment Pointed chin Abnormality of the outer ear Abnormal electroretinogram Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hypoglycemic seizures Alopecia Proptosis Enlarged joints Ovoid vertebral bodies Ectopia pupillae Hemivertebrae Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Panhypopituitarism Broad face Glaucoma Bilateral cleft lip and palate Carious teeth Arachnodactyly Cerebral calcification Hypogonadotrophic hypogonadism Melanocytic nevus Camptodactyly of toe Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Depressed nasal tip Atrial septal defect Abnormality of the dentition Bilateral cleft lip Conductive hearing impairment Median cleft lip Partial agenesis of the corpus callosum Flat face Mesomelic arm shortening Abnormal oral frenulum morphology Choanal atresia Alobar holoprosencephaly Ataxia Obesity Flat nasal alae Fusion of the left and right thalami Finger syndactyly Hypoplasia of penis Type II diabetes mellitus Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Absent nasal septal cartilage Hypoplasia of the premaxilla Flexion contracture Toe clinodactyly Abnormality of the skeletal system Semilobar holoprosencephaly Syndactyly Clinodactyly Osteoporosis Skeletal dysplasia Camptodactyly Midline defect of the nose Single median maxillary incisor Abnormality of skin pigmentation Median cleft lip and palate Multiple joint contractures Anal stenosis Bilateral microphthalmos Microcornea Abnormal palate morphology Renal insufficiency Metaphyseal widening Platyspondyly Prominent nose Retinal dystrophy Short metacarpal Waddling gait Progressive visual loss Limb undergrowth Abnormality of the ribs Recurrent otitis media Bowing of the long bones Rhizomelia Coxa vara Highly arched eyebrow Metaphyseal irregularity Joint stiffness Bowing of the legs Flared metaphysis Abnormality of color vision Femoral bowing Tibial bowing Short finger High hypermetropia Disproportionate short stature Macular atrophy Thoracic scoliosis Iris hypopigmentation Peripheral visual field loss Retinal atrophy Beaking of vertebral bodies Nyctalopia Postnatal growth retardation Radioulnar synostosis Bifid tongue Chorioretinal coloboma Ulnar deviation of finger Abnormal localization of kidney Dimple chin Coronal hypospadias Hypoplasia of the maxilla Lumbar hyperlordosis Encephalocele Preauricular skin tag Finger clinodactyly Aplasia/Hypoplasia of the corpus callosum Diabetes insipidus Hypopituitarism Widow's peak Hypoplastic frontal sinuses Hyperlordosis Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Midline nasal groove Basal encephalocele Flat occiput Holoprosencephaly Omphalocele Visual impairment Hypotelorism Visual loss Severe short stature Photophobia Ossifying fibroma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Tetraplegia, related diseases and genetic alterations Intrauterine growth retardation and Hydronephrosis, related diseases and genetic alterations Macrocephaly and Focal seizures, related diseases and genetic alterations Low-set ears and Paresthesia, related diseases and genetic alterations Ptosis and Dystonia, related diseases and genetic alterations Cataract and Small nail, related diseases and genetic alterations

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