Brachydactyly, and Short palpebral fissure

Diseases related with Brachydactyly and Short palpebral fissure

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


Top 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 INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY 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

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Other less relevant matches:

Medium 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

Medium match PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Medium match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

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 PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Medium match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Medium match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Anteverted nares Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Short palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Blepharophimosis Generalized hypotonia Microcephaly Deeply set eye Short neck High palate Depressed nasal bridge Camptodactyly Growth delay Cryptorchidism Delayed speech and language development Ptosis Wide nasal bridge Clinodactyly Sensorineural hearing impairment Narrow palpebral fissure Micrognathia Talipes equinovarus Epicanthus Abnormality of cardiovascular system morphology Polyhydramnios Hypertelorism Long philtrum Short nose Low-set ears Absent speech Coarse facial features Macrocephaly Everted lower lip vermilion Autistic behavior Short palm Intrauterine growth retardation Cleft palate Frontal bossing Retrognathia Thin vermilion border Facial asymmetry Feeding difficulties Obesity Posteriorly rotated ears Wide nasal base Scoliosis Broad nasal tip Alopecia Nystagmus

Rare Symptoms - Less than 30% cases


Upslanted palpebral fissure Muscular hypotonia Failure to thrive Specific learning disability Laryngeal hypoplasia 4-5 toe syndactyly Agenesis of corpus callosum Delayed ability to walk Short metatarsal Short metacarpal Short foot Patent ductus arteriosus Astigmatism Hypospadias Telecanthus Wide intermamillary distance Full cheeks Stenosis of the external auditory canal Microretrognathia Triangular face Cerebellar atrophy Decreased fetal movement Thick eyebrow Smooth philtrum Myopia Downslanted palpebral fissures Wide mouth Postnatal growth retardation Aggressive behavior Autism Hypertension Syndactyly Respiratory distress Abnormality of the pinna External ear malformation Broad distal phalanx of finger Cerebellar hypoplasia Redundant neck skin 2-3 toe syndactyly Broad columella Talipes Inability to walk Thick vermilion border Low posterior hairline Microcornea Toe syndactyly Hernia Vomiting Delayed myelination Abnormality of the skeletal system Broad philtrum Severe short stature Clinodactyly of the 5th finger Abnormal form of the vertebral bodies Hydrocephalus Sparse hair Tapered finger Short humerus Polyphagia Sleep disturbance Esotropia Limited elbow extension Narrow forehead Open mouth Rocker bottom foot Adducted thumb Akinesia Exotropia Pterygium Increased body weight Failure to thrive in infancy Impulsivity Amblyopia Poor suck Sleep apnea Hyperinsulinemia Trigonocephaly Aniridia Small hand Impaired ocular adduction Ectopic kidney Aplasia/Hypoplasia of the thumb Respiratory insufficiency Flexion contracture Patchy hypopigmentation of hair Palpebral fissure narrowing on adduction Central heterochromia Impaired ocular abduction Narrow internal auditory canal Congenital sensorineural hearing impairment Hypoplastic iris stroma Absent radius Abnormal vertebral segmentation and fusion Anorectal anomaly Optic disc hypoplasia Oculomotor nerve palsy Abnormal pupil morphology Blepharospasm Preaxial hand polydactyly Chorioretinal coloboma Arthrogryposis multiplex congenita Irregular hyperpigmentation Hyperlordosis Apnea Neonatal hypotonia Hypoglycemia Gastroesophageal reflux Preauricular skin tag Mandibular prognathia Spina bifida occulta Plagiocephaly Triphalangeal thumb Micropenis Hypogonadism Hyperhidrosis Constipation Depressivity Hypopigmented skin patches Kyphosis Hypoplasia of the radius Hypoventilation Abnormality of digit Hyperventilation Narrow chest Small nail Oligohydramnios Intestinal malrotation Abdominal distention Postural instability Downturned corners of mouth Hirsutism Pulmonic stenosis Abnormal cardiac septum morphology Abnormality of the genital system Respiratory failure Abnormal heart morphology Dilatation Atrial septal defect Cardiomyopathy Hypoplasia of the corpus callosum Ventricular septal defect Dysphagia Cerebellar vermis hypoplasia Pachygyria Aplasia/Hypoplasia of the middle phalanx of the 5th finger Double outlet right ventricle Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Abnormality of the larynx Cleft soft palate Tracheal stenosis Pierre-Robin sequence Tracheomalacia Large fontanelles Anteriorly placed anus Hypoplastic left heart Bilateral cryptorchidism Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Sparse eyelashes Wide anterior fontanel Deviation of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Fetal akinesia sequence Renal insufficiency Abnormal vertebral morphology Short thumb Choanal atresia Single transverse palmar crease Oral cleft Anal atresia Finger syndactyly Macrotia Cognitive impairment Finger clinodactyly Intermittent hyperventilation Narrow palm Temperature instability Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Misalignment of teeth Short toe Abnormality of the hand Small anterior fontanelle Asplenia Annular pancreas Aplasia of the middle phalanx of the hand Frontal balding Accessory spleen Intestinal atresia Periorbital fullness Abnormality of the spleen Duodenal atresia Polysplenia Nephritis Short 5th finger Depressed nasal tip Vocal cord paralysis Esophageal atresia Iris coloboma Prominent occiput Hallux valgus Short middle phalanx of finger Tracheoesophageal fistula Webbed neck Poor speech Abnormality of eye movement Lymphedema Generalized hyperpigmentation Hamartoma Absent septum pellucidum Aplasia/Hypoplasia of the skin Multiple lipomas Abnormality of the ear Opacification of the corneal stroma Hyperpigmentation of the skin Abnormality of the ureter Aganglionic megacolon Coarctation of aorta Abnormality of the cardiovascular system Nevus Stroke Coloboma Proptosis Aplasia cutis congenita Arachnoid cyst Neoplasm Abnormality of the bladder Microphthalmia Ossifying fibroma Anisometropia Gastrointestinal atresia Abnormal conjunctiva morphology Exstrophy Epidermal nevus Parietal bossing Transient ischemic attack Abnormality of the penis Epibulbar dermoid Fibroma Bladder exstrophy Epispadias Abnormality of nervous system morphology Lower limb asymmetry Eyelid coloboma Hyperactivity Frontal hirsutism Hip dislocation Thin upper lip vermilion Spasticity Ataxia Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Broad thumb Low-set, posteriorly rotated ears High forehead Hyporeflexia Hypothyroidism Glaucoma Diabetes mellitus Rod-cone dystrophy Intellectual disability, mild Motor delay Visual impairment Cerebral atrophy Babinski sign Infra-orbital crease Dental crowding Pseudohypoparathyroidism Underdeveloped supraorbital ridges Laryngomalacia Severe global developmental delay Malar flattening Broad face Relative macrocephaly Hypertrichosis Prominent forehead Apraxia Neuronal loss in central nervous system Macroglossia Delayed eruption of teeth Abnormality of the cerebral white matter Hepatosplenomegaly Kyphoscoliosis Cerebral cortical atrophy Hydronephrosis Rhizomelia Skeletal muscle atrophy Joint dislocation Overfolded helix Abnormality of the metacarpal bones Mutism Drooling Widely spaced teeth Sandal gap Accelerated skeletal maturation Absence seizures Absent eyebrow Low anterior hairline Abnormality of epiphysis morphology Short phalanx of finger Long eyelashes Broad-based gait Sparse scalp hair Thick lower lip vermilion Cone-shaped epiphysis Aphasia Eczema Excessive wrinkled skin Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Eclabion Dysphasia Enlarged joints Abnormality of the testis Abnormal hair pattern Echolalia Abnormality of finger Epileptic spasms Protruding tongue Narrow nasal bridge Status epilepticus Highly arched eyebrow Joint contracture of the hand Hypoplastic iliac wing Humeroradial synostosis Wrist flexion contracture Hydranencephaly Fibular aplasia Ambiguous genitalia, male Hypoplastic ilia Short femur Hypoplastic scapulae Hypoplastic ischia Microglossia Bell-shaped thorax Dislocated radial head Mesomelia Redundant skin Congenital hip dislocation Elbow flexion contracture Long clavicles Ambiguous genitalia, female High, narrow palate Intellectual disability, severe Wide nose Synophrys Hypotrichosis Small for gestational age Brachycephaly Osteoporosis Delayed skeletal maturation Abnormality of the joint spaces of the elbow Hypoplastic pubic bone Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Mesomelic leg shortening Microtia, first degree Alveolar ridge overgrowth Facial hirsutism Bronchomalacia



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 Frontal bossing, related diseases and genetic alterations Hepatomegaly and Muscular hypotonia of the trunk, related diseases and genetic alterations

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