Brachydactyly, and Deeply set eye

Diseases related with Brachydactyly and Deeply set eye

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


Top matches:

Medium match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

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Other less relevant matches:

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Medium 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

Medium match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Top 5 symptoms//phenotypes associated to Brachydactyly and Deeply set eye

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Deeply set eye. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears High forehead Strabismus Hearing impairment Broad nasal tip Motor delay Cryptorchidism Anteverted nares Delayed speech and language development Absent speech Short nose Long philtrum Upslanted palpebral fissure High palate Depressed nasal bridge Short foot Micrognathia Short distal phalanx of finger Midface retrusion Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Mandibular prognathia Short palpebral fissure Delayed myelination Stereotypy Sparse hair Low-set, posteriorly rotated ears Diabetes mellitus Protruding ear Posteriorly rotated ears Short philtrum Prominent forehead Severe short stature Clinodactyly Macrocephaly Myopia Talipes equinovarus Downturned corners of mouth Intrauterine growth retardation Epicanthus Underdeveloped supraorbital ridges Macrotia Autism Hyperactivity Micropenis Intellectual disability, severe Downslanted palpebral fissures Feeding difficulties Short metatarsal High pitched voice Short metacarpal Autistic behavior Severe global developmental delay Retrognathia Obesity Cognitive impairment Frontal bossing Hypertelorism Aggressive behavior Gingival overgrowth Wide nasal bridge Dolichocephaly Toe syndactyly Joint hypermobility Ventriculomegaly Agenesis of permanent teeth Malar flattening Abnormality of the skeletal system Nail dysplasia Inability to walk Reduced number of teeth Sandal gap Small nail Sensorineural hearing impairment Azoospermia Widely spaced teeth Pointed chin Shuffling gait Distal lower limb amyotrophy Relative macrocephaly Restlessness Cone-shaped epiphysis Facial hypotonia Type II diabetes mellitus Short femoral neck Short finger Disproportionate short stature Multiple cafe-au-lait spots Low hanging columella Progressive spastic paraplegia Oligospermia Lower limb hyperreflexia Hypoplastic pelvis Breast hypoplasia Dental crowding Small hand Waddling gait Low frustration tolerance Drooling Precocious puberty Unilateral renal agenesis 2-3 toe syndactyly Small forehead Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Abnormality of the dentition Prominent nose Lower limb hypertonia Alopecia areata Diastema Furrowed tongue Osteopenia Developmental regression Postnatal growth retardation Wide mouth Microtia Small for gestational age Carious teeth Long face Triangular face Clitoral hypoplasia Hyperreflexia Frontal balding Hypercholesterolemia Intellectual disability, moderate Tetralogy of Fallot Blue sclerae Depressed nasal ridge Osteoarthritis Babinski sign Abnormal lung morphology Chronic diarrhea Hypohidrosis Short toe Lymphopenia Increased body weight Short long bone Microdontia Keratitis Truncal obesity External genital hypoplasia Prematurely aged appearance Proportionate short stature Abnormality of the elbow Concave nasal ridge Immune dysregulation Delayed menarche Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Pectus excavatum Lymphoid interstitial pneumonia Eczema Camptodactyly of finger Large hands Diarrhea Hypoplastic sacrum Spasticity Intellectual disability, progressive Neoplasm Failure to thrive Decreased body weight Interphalangeal joint contracture of finger Decreased testicular size Hypoplasia of the maxilla Tapered finger High, narrow palate Short palm Respiratory distress Recurrent infections Prominent nasal bridge Delayed skeletal maturation Pneumonia Hypoglycemia Delayed puberty Delayed eruption of teeth Falls Smooth philtrum Paraplegia Poor speech Hypermetropia Growth hormone deficiency Progressive visual loss Spastic paraplegia Hypoplasia of penis Thick eyebrow Synophrys Ambiguous genitalia Hydrocephalus Syndactyly Hypospadias Agenesis of corpus callosum Polydactyly Cleft lip Abnormality of the pinna Micromelia Cleft upper lip Oral cleft Postaxial polydactyly Wide intermamillary distance Holoprosencephaly Bilateral triphalangeal thumbs Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Nystagmus Visual impairment Hypertension Cerebellar atrophy Cleft palate Hidrotic ectodermal dysplasia Alopecia Bilateral sensorineural hearing impairment Narrow mouth Neonatal hypotonia Joint laxity Abnormal cardiac septum morphology Unsteady gait Flat face Hypopigmentation of the skin Hyperplasia of the maxilla Pes planus Nail dystrophy Ectodermal dysplasia Hypotelorism Hypertrichosis Absent toenail Oligodontia Abnormality of the hand Triphalangeal thumb Congenital sensorineural hearing impairment Anonychia Abnormality of digit Aplasia cutis congenita Severe sensorineural hearing impairment Conical tooth High-frequency hearing impairment Hypoplasia of teeth Selective tooth agenesis Anhidrotic ectodermal dysplasia Intellectual disability, mild Rod-cone dystrophy Brachycephaly Poor eye contact Convex nasal ridge Epileptic encephalopathy Open mouth Broad-based gait Heterotopia Short chin Absence seizures Plagiocephaly Optic nerve hypoplasia Tented upper lip vermilion Cupped ear Infantile spasms Abnormality of the periventricular white matter Generalized myoclonic seizures Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Hemiclonic seizures Frontal cortical atrophy Periventricular white matter hyperdensities Ventricular septal defect Hernia Clinodactyly of the 5th finger Hypogonadism Febrile seizures Everted lower lip vermilion Glaucoma Laryngomalacia Hypothyroidism Broad thumb Progressive hearing impairment Corneal dystrophy Congenital hypothyroidism Broad columella Wide nasal base Broad distal phalanx of finger Ptosis Short neck Astigmatism Thin vermilion border Delayed ability to walk Iris coloboma Pseudohypoparathyroidism Infra-orbital crease Frontal hirsutism Muscular hypotonia Hypoplasia of the corpus callosum Dilatation Encephalopathy Myoclonus EEG abnormality Coloboma Attention deficit hyperactivity disorder Broad forehead Generalized tonic-clonic seizures Talipes calcaneovarus



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