Brachydactyly, and Lissencephaly

Diseases related with Brachydactyly and Lissencephaly

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


Top matches:

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Low 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

Low match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

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Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low 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

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Top 5 symptoms//phenotypes associated to Brachydactyly and Lissencephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Pachygyria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Ventricular septal defect Cleft palate Atrial septal defect Abnormal heart morphology Hydrocephalus Micrognathia Abnormal facial shape Hypertelorism Low-set ears Patent ductus arteriosus Hearing impairment Short stature Respiratory insufficiency Small nail Protruding tongue Cerebellar hypoplasia Cryptorchidism Clinodactyly Depressed nasal bridge Delayed speech and language development Muscular hypotonia Ventriculomegaly Hernia Agenesis of corpus callosum Delayed skeletal maturation Polyhydramnios Posteriorly rotated ears Abnormality of cardiovascular system morphology Syndactyly Short nose Brachycephaly Cerebellar vermis hypoplasia Narrow chest Short palm Intestinal malrotation Platyspondyly Retrognathia Abnormality of the larynx Cortical gyral simplification Scoliosis High palate Feeding difficulties Wide nasal bridge Synophrys Short neck

Rare Symptoms - Less than 30% cases


Double outlet right ventricle Short metacarpal Upslanted palpebral fissure Porencephalic cyst Turricephaly Bicuspid aortic valve Microphthalmia Redundant skin EEG abnormality Poor suck Short toe Abnormality of the ribs Abnormality of the kidney Downslanted palpebral fissures Respiratory failure Sparse hair Short tibia Short distal phalanx of finger Conductive hearing impairment Convex nasal ridge Esotropia Talipes equinovarus Pulmonary arterial hypertension Spondylometaphyseal dysplasia Clinodactyly of the 5th finger Hypertension Anteriorly placed anus Mandibular prognathia Hypoplastic left heart Bilateral cryptorchidism Deep palmar crease Wide anterior fontanel Short palpebral fissure Oligohydramnios Full cheeks Abdominal distention Gastroesophageal reflux Recurrent aspiration pneumonia Pulmonic stenosis Abnormal cardiac septum morphology Respiratory distress Postnatal growth retardation Abnormality of the pinna Frontal bossing Reduced subcutaneous adipose tissue Midface retrusion Dilatation Intellectual disability, mild Abnormality of the dentition Heterotopia Strabismus Cataract Polymicrogyria Abnormality of the metacarpal bones Macroglossia Hypermetropia Pulmonary hypoplasia Behavioral abnormality Cleft upper lip Absent speech Skeletal dysplasia Constipation Cutis marmorata Astigmatism Thin upper lip vermilion Long philtrum Obesity Motor delay Macrocephaly Craniosynostosis Edema Hypertonia Cardiomyopathy Sensorineural hearing impairment Umbilical hernia Cleft lip Micropenis Dysphagia Oral cleft Postaxial hand polydactyly Short ribs Thin vermilion border Tricuspid regurgitation Ptosis Ataxia Epicanthus Mesomelia Abnormality of the genital system Left ventricular hypertrophy Sclerocornea Abnormality of the foot Smooth philtrum High, narrow palate Broad forehead Everted lower lip vermilion Hypoplasia of the maxilla Coronal craniosynostosis Triangular face Sepsis Abnormality of the skull Microdontia Underdeveloped supraorbital ridges Low posterior hairline Hypoplastic nipples Aortic aneurysm Abnormal tracheobronchial morphology Abnormality of vision Coarse hair Scrotal hypoplasia Generalized hirsutism Low anterior hairline Large hands Prematurely aged appearance Anonychia Recurrent urinary tract infections Natal tooth Hypertrichosis Sparse scalp hair Oligodontia Abnormality of the eye Muscle weakness Midline brain calcifications Arteriovenous malformation Aplasia cutis congenita of scalp Periventricular leukomalacia Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Calvarial skull defect Aplastic/hypoplastic toenail Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Supernumerary nipple Portal hypertension Chylothorax Absent hand Abnormality of the forearm Aplasia cutis congenita on trunk or limbs Head-banging Proptosis Narrow mouth Frequent temper tantrums Sleep-wake inversion Finger clinodactyly Hypoplasia of the radius Nystagmus Aplasia cutis congenita over posterior parietal area Dislocated radial head Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Radioulnar synostosis Abnormal eyelid morphology Broad palm Premature skin wrinkling Single transverse palmar crease Omphalocele Broad-based gait Hypertriglyceridemia Decreased fetal movement Abnormality of the cardiovascular system Otitis media Microcornea Delayed eruption of teeth Sleep disturbance Stereotypy Retinal detachment Duodenal atresia Nephropathy Falls Paresthesia Dry skin Lethargy Microtia Paralysis Hypoplasia of dental enamel Bruxism Intellectual disability, moderate Drooling Progressive spastic paraplegia Abnormality of the thyroid gland Impaired pain sensation Open bite Impulsivity Self-injurious behavior Abnormality of the urinary system Sacral dimple Abnormality of the outer ear Sinusitis Hypercholesterolemia Increased body weight Hoarse voice Drowsiness Overweight Abnormal vertebral morphology Self-mutilation Chronic constipation Short attention span Hyperlordosis Aggressive behavior Morphological abnormality of the middle ear Hyperacusis Recurrent ear infections Wide nasal ridge Everted upper lip vermilion Velopharyngeal insufficiency Absent distal phalanges Upper eyelid coloboma Excessive daytime sleepiness Mood changes Premature atrial contractions Cavum septum pellucidum Absence of subcutaneous fat Abnormality of the immune system Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Prominent superficial veins Pelvic kidney Abnormality of upper lip Hypoplasia of the abdominal wall musculature Congenital craniofacial dysostosis Anxiety Hyporeflexia Deeply set eye Pes planus High forehead Hypothyroidism Cerebral cortical atrophy Hyperactivity Prominent forehead Pes cavus Inguinal hernia Areflexia Abnormal renal morphology Abnormality of metabolism/homeostasis Malar flattening Myopia Peripheral neuropathy Pain Aplasia/Hypoplasia of the nasal bone Thick upper lip vermilion Broad face Aplastic/hypoplastic lacrimal glands Small hand Short foot Leukopenia Metaphyseal irregularity Cone-shaped epiphyses of the phalanges of the hand Cardiorespiratory arrest Heart block Metaphyseal dysplasia Disproportionate short stature Short finger Thoracic hypoplasia Abnormality of neuronal migration Cone-shaped epiphysis Hyperphosphatemia Systemic lupus erythematosus Atrioventricular block Short long bone Accelerated skeletal maturation Hypocalcemia Rhizomelia Short phalanx of finger Limb undergrowth Apnea Delayed epiphyseal ossification Flat acetabular roof Disproportionate shortening of the tibia Long fibula Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Pulmonary hemorrhage Hypoplastic iliac wing Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Metaphyseal cupping Metaphyseal chondrodysplasia Flared iliac wings 11 pairs of ribs Myocarditis Arrhythmia Postaxial polysyndactyly of foot Horizontal inferior border of scapula Hypertrophic cardiomyopathy Failure to thrive in infancy Short chin Ventricular hypertrophy Dandy-Walker malformation Delayed myelination Bifid uvula Severe global developmental delay Wide mouth Coarse facial features Periorbital fullness IgG deficiency IgA deficiency Atonic seizures Decreased antibody level in blood Highly arched eyebrow Joint hypermobility Poor speech Attention deficit hyperactivity disorder Joint laxity Severe failure to thrive Skull asymmetry Polysyndactyly of hallux Microglossia Shortening of the tibia Pancreatic fibrosis Hypoplasia of the epiglottis Hamartoma of tongue Horizontal ribs Median cleft lip and palate Lateral clavicle hook Dilation of lateral ventricles Thoracic dysplasia Median cleft lip Severe short stature Preaxial hand polydactyly Polycystic kidney dysplasia Hepatic fibrosis Hydrops fetalis Ambiguous genitalia Renal cyst Retinal dystrophy Pectus carinatum Polydactyly Irregular tarsal bones 11 thoracic vertebrae Meningitis Organic aciduria Aplasia of the middle phalanges of the toes Cutaneous leiomyoma Mitochondrial encephalopathy Choroid plexus cyst Aplasia/Hypoplasia involving the metacarpal bones Infantile encephalopathy Psychomotor deterioration Enterocolitis Synostosis of carpal bones Cognitive impairment Fibular hypoplasia Polycythemia Aplasia/Hypoplasia of the thumb Tarsal synostosis Abnormality of the coagulation cascade Hypoplasia of the brainstem Sarcoma Relative macrocephaly Optic nerve hypoplasia Open operculum Abnormality of the skeletal system Hyperammonemia Gastrointestinal hemorrhage Aortic valve stenosis Telangiectasia Encephalocele Split hand Hemiparesis Coarctation of aorta Tetralogy of Fallot Nail dysplasia Premature birth Thrombocytopenia Ascites Cirrhosis Talipes Toe syndactyly Leukemia Finger syndactyly Prominent nasal bridge Osteopenia Alopecia Disproportionate short-limb short stature Aminoaciduria Vomiting Abnormality of the genitourinary system Entropion Redundant neck skin Cleft soft palate Tracheal stenosis Pierre-Robin sequence Tracheomalacia Neonatal respiratory distress Proximal placement of thumb Microretrognathia Extramedullary hematopoiesis Sparse eyelashes Narrow palpebral fissure Large fontanelles Postural instability Downturned corners of mouth Hirsutism Blepharophimosis Telecanthus Hypospadias Endocardial fibroelastosis Anotia Hyperbilirubinemia Micromelia Bowing of the long bones Cholestasis Status epilepticus Intellectual disability, profound Generalized-onset seizure Aciduria Metabolic acidosis Hepatic failure Lactic acidosis Neurological speech impairment Bronchomalacia Joint stiffness Pallor Acidosis Encephalopathy Cerebral atrophy Optic atrophy Visual impairment Neoplasm Laryngeal hypoplasia Patellar aplasia



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