Brachydactyly, and Leukodystrophy

Diseases related with Brachydactyly and Leukodystrophy

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


Top matches:

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE


Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

Low match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Low match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Low match CODAS SYNDROME


Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Low match KEUTEL SYNDROME


Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

KEUTEL SYNDROME Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|pulmonic stenosis, brachytelephalangism, and calcification of cartilages

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEUTEL SYNDROME

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Leukodystrophy

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

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Delayed myelination

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed speech and language development Sensorineural hearing impairment Abnormal facial shape Nystagmus Cataract Malar flattening Ventriculomegaly Long philtrum Hypospadias Midface retrusion Clinodactyly of the 5th finger Hypothyroidism Hypoplasia of the corpus callosum Frontal bossing Delayed CNS myelination Ventricular septal defect High palate Wide nasal bridge Hypertelorism Epicanthus Ptosis Muscular hypotonia Growth delay Optic atrophy Prominent forehead Macrotia High forehead Failure to thrive Retrognathia Thin upper lip vermilion Hydronephrosis Downslanted palpebral fissures Low-set, posteriorly rotated ears Micrognathia Constipation Coloboma Broad nasal tip Delayed skeletal maturation Hypertension Abnormality of the skeletal system Scoliosis Deeply set eye Short phalanx of finger Agenesis of corpus callosum Short thumb Feeding difficulties Brachycephaly Macrocephaly Short neck Hydrocephalus Posteriorly rotated ears Intellectual disability, mild Short nose Myopia Cerebral atrophy Atrial septal defect Clinodactyly Absent speech

Rare Symptoms - Less than 30% cases


Bifid uvula Spinal canal stenosis Conductive hearing impairment Abnormality of the pinna Hypermetropia Missing ribs Short metacarpal Hip dysplasia Widened subarachnoid space Atrioventricular canal defect Bilateral ptosis Upslanted palpebral fissure Hand polydactyly Pyloric stenosis Infantile muscular hypotonia Obesity Visual impairment Sinusitis Cerebral cortical atrophy Broad columella Cerebellar hypoplasia Cleft palate Pachygyria Hypertonia Broad palm Synophrys Motor delay Aplasia/Hypoplasia of the corpus callosum Proximal placement of thumb Optic disc pallor Congenital hypothyroidism Short foot Hypertrichosis Abnormal vertebral morphology Spasticity Micropenis Foot polydactyly Annular pancreas Abnormality of the anus Lambdoidal craniosynostosis Hypoplasia of the odontoid process Chorioretinal coloboma Abnormal form of the vertebral bodies Camptodactyly Iris coloboma Anal atresia Facial asymmetry Toe syndactyly Hip dislocation Neurological speech impairment Small for gestational age Finger syndactyly Abnormal cardiac septum morphology Craniosynostosis Feeding difficulties in infancy Intellectual disability, moderate Microcornea Alopecia Short palpebral fissure Flexion contracture Hypogonadism Osteoporosis Recurrent respiratory infections Patent ductus arteriosus Abnormality of cardiovascular system morphology Microphthalmia Behavioral abnormality Intrauterine growth retardation Progressive hearing impairment Single transverse palmar crease Patent foramen ovale Intestinal malrotation Otitis media Coarctation of aorta Microdontia Neonatal hypotonia Narrow palpebral fissure Gait disturbance Dysphagia Generalized hirsutism Cardiomyopathy Pulmonary artery stenosis Pointed chin Wide anterior fontanel Myopathy Chronic sinusitis Irregular vertebral endplates Stereotypy Kyphosis Telangiectasia Large fontanelles Decreased body weight Heterotopia Mitral regurgitation Costal cartilage calcification Cognitive impairment Epiphyseal stippling Abnormal intestine morphology Cartilaginous ossification of nose Scrotal hypoplasia Sacral dimple Bicuspid aortic valve Growth abnormality Leukoencephalopathy Deep philtrum Hypercholesterolemia Cranial nerve paralysis Cartilaginous ossification of larynx Short hallux Dermal atrophy Nasal speech Calcification of the auricular cartilage Aortic aneurysm Muscle weakness Emphysema Mixed hearing impairment Recurrent sinusitis Spastic tetraparesis Pes cavus Tracheal atresia Soft, doughy skin Microtia Cleft upper lip Poor speech Shortening of all distal phalanges of the fingers Abnormality of the cerebral white matter Gastroesophageal reflux Short nail Papillary thyroid carcinoma Dilated cardiomyopathy Abdominal aortic aneurysm Camptodactyly of finger Polymicrogyria Obstructive lung disease Blepharophimosis Abnormality of the liver EEG abnormality Joint stiffness Abnormality of the eye Abnormality of the kidney Aggressive behavior Arterial calcification Oral cleft Hepatic steatosis Pulmonary artery hypoplasia Hypsarrhythmia Depressed nasal ridge Tetraparesis Ventricular hypertrophy Recurrent bronchitis Chronic obstructive pulmonary disease Calcification of cartilage Thyroid carcinoma Interphalangeal joint contracture of finger Narrow mouth Abnormality of the ribs Mandibular prognathia Hypoplasia of penis Tetralogy of Fallot Premature fusion of phalangeal epiphyses Epileptic encephalopathy Delayed gross motor development Autism Peripheral pulmonary artery stenosis Abnormality of the skin Brain atrophy Renal cyst Abnormal blistering of the skin Hiatus hernia Abnormality of vision Congenital talipes calcaneovalgus Splenomegaly Hepatomegaly Hyperreflexia Anemia Ataxia Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Bilobate gallbladder Hepatosplenomegaly Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Jaundice Spastic paraplegia Muscle flaccidity Sparse hair Infra-orbital crease Pseudohypoparathyroidism Underdeveloped supraorbital ridges Delayed ability to walk Short metatarsal Laryngomalacia Thin vermilion border Astigmatism Severe global developmental delay Broad distal phalanx of finger Wide nasal base Corneal dystrophy Broad thumb Glaucoma Paraplegia Diabetes mellitus Rod-cone dystrophy Cerebellar atrophy Hypoglycorrhachia Zonular cataract Hemoglobinuria Stomatocytosis Conjugated hyperbilirubinemia Broad neck Hyperkalemia Hyperbilirubinemia Hemolytic anemia Inability to walk Hypoplastic labia minora Aortic arch aneurysm Failure to thrive in infancy Absent septum pellucidum Abnormal eyebrow morphology Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Aortic root aneurysm Submucous cleft hard palate Anteriorly placed anus Neuroblastoma Slender long bone Telangiectasia of the skin Abnormality of the immune system Ocular albinism Abnormal heart valve morphology Infantile spasms High hypermetropia Macule Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Self-injurious behavior Coronal craniosynostosis Short 5th finger Abnormality of brain morphology Colpocephaly Expressive language delay Abnormality of the optic disc Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Thickened helices Abnormality of the gastrointestinal tract Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Spontaneous abortion Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Cutis laxa Pneumonia Recurrent otitis media Labial hypoplasia Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Abnormal thrombocyte morphology Aplasia/Hypoplasia of the earlobes Arteria lusoria Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Double outlet right ventricle Abnormal eyelash morphology Internal hemorrhage Bilateral camptodactyly Wheezing Short finger Metaphyseal cupping of metacarpals Anterior rib cupping Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Flared iliac wings Spondyloepimetaphyseal dysplasia Thoracic kyphosis Broad foot Thin ribs Short femoral neck Congenital thrombocytopenia Metaphyseal widening Intellectual disability, progressive Coxa vara Wormian bones Low anterior hairline Abnormality of the face Thick eyebrow Platyspondyly Coarse facial features Dysarthria Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Bipolar affective disorder Transposition of the great arteries Peg-like central prominence of distal tibial metaphyses Hypoglycemia Bruising susceptibility Tachycardia Smooth philtrum Talipes Narrow chest Dolichocephaly Leukemia Skin rash Attention deficit hyperactivity disorder Postnatal growth retardation Telecanthus Pes planus Premature birth Osteopenia Inguinal hernia Abnormal heart morphology Pectus excavatum Hernia Thrombocytopenia Recurrent infections Immunodeficiency Syndactyly Congestive heart failure Abnormality of the dentition Talipes equinovarus Postural instability Decreased antibody level in blood Natal tooth Abnormal palate morphology Slender finger Partial agenesis of the corpus callosum Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Ectropion Trigonocephaly Schizophrenia Tachypnea Azoospermia Webbed neck Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Short toe Amblyopia Pancytopenia Eczema Dehydration Growth hormone deficiency Cone-shaped capital femoral epiphysis Joint hypermobility Pulmonary arterial hypertension Overfolded helix Coronal cleft vertebrae Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Prominent metopic ridge Short humerus Metaphyseal dysplasia Hydroureter Spondyloepiphyseal dysplasia Abnormality of dental morphology Epiphyseal dysplasia Delayed ossification of carpal bones Abnormality of pelvic girdle bone morphology CNS hypomyelination Short long bone Drooling Short chin Abnormality of dental enamel Congenital hip dislocation Abnormality of epiphysis morphology Hypoplasia of dental enamel Omphalocele Generalized muscle weakness Thin eyebrow Pes valgus Flat face Respiratory tract infection Sloping forehead Cerebral calcification Memory impairment Underdeveloped nasal alae Asthma Wide nose Short distal phalanx of finger Long face Infertility Pulmonic stenosis Hypotrichosis Carcinoma Vocal cord paresis Respiratory failure Dilatation Absent epiphyses Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Hemiatrophy Lumbar scoliosis Midline defect of the nose Delayed eruption of teeth Joint hyperflexibility Downturned corners of mouth Central hypotonia Nail dysplasia Retinal dystrophy Postaxial polydactyly Protruding ear Polydactyly Blindness Cerebral white matter hypoplasia Narrow nasal tip Lower limb hypertonia Tethered cord Chordee Syringomyelia Renal hypoplasia Narrow nasal bridge Supernumerary nipple Hypoplastic toenails Widely spaced teeth Oculomotor apraxia Finger clinodactyly Clonus Exotropia Blue sclerae Apraxia Tapered finger Highly arched eyebrow High myopia Microretrognathia Genu valgum Female hypogonadism Congenital cataract Broad forehead Short philtrum Polyhydramnios Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Small scrotum Uplifted earlobe Orbital cyst Inferior vermis hypoplasia Abnormality of the cervical spine Severe muscular hypotonia Anterior pituitary hypoplasia Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Sclerocornea Microglossia Adrenal hypoplasia Postaxial foot polydactyly Short middle phalanx of finger Preaxial hand polydactyly Bifid scrotum Anophthalmia Plagiocephaly Frontal hirsutism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Progressive neurologic deterioration, related diseases and genetic alterations Macrocephaly and Pes planus, related diseases and genetic alterations

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