Failure to thrive, and Dandy-Walker malformation

Diseases related with Failure to thrive and Dandy-Walker malformation

In the following list you will find some of the most common rare diseases related to Failure to thrive and Dandy-Walker malformation that can help you solving undiagnosed cases.

Top matches:

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

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

Other less relevant matches:

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

High match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Dandy-Walker malformation

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus Hypertelorism Cleft palate Long philtrum Growth delay Short stature Microcephaly Hernia Motor delay Feeding difficulties Hypoplasia of the corpus callosum Delayed speech and language development Muscular hypotonia Downslanted palpebral fissures Cryptorchidism Short nose Depressed nasal bridge Scoliosis Anteverted nares Abnormality of the skeletal system Hydrocephalus Postnatal growth retardation High myopia Cutis laxa Congenital hip dislocation Delayed eruption of teeth Frontal bossing Strabismus Polydactyly Pectus excavatum Lipodystrophy Smooth philtrum Ventricular septal defect Carious teeth Brachydactyly Abnormality of the dentition Sparse hair Absent speech Broad nasal tip Joint hypermobility Inguinal hernia Kyphoscoliosis Abnormal isoelectric focusing of serum transferrin Emphysema Midface retrusion Malar flattening

Rare Symptoms - Less than 30% cases

Skeletal dysplasia Myopia Microdontia Short distal phalanx of finger Lissencephaly Small nail Narrow nose Slender long bone Thin vermilion border Wide mouth Umbilical hernia Coarse facial features Retrognathia Camptodactyly Esotropia Craniosynostosis Narrow palpebral fissure Hyperactivity Aggressive behavior Low-set, posteriorly rotated ears Thick vermilion border Single transverse palmar crease Posteriorly rotated ears Progressive microcephaly Infantile muscular hypotonia Decreased muscle mass Wormian bones Generalized joint laxity Delayed closure of the anterior fontanelle Postaxial polydactyly Excessive wrinkled skin Prominent nasolabial fold Prominent veins on trunk Epicanthus Thick cerebral cortex Abnormality of the intrinsic pathway Fragmented elastic fibers in the dermis Micrognathia Postaxial hand polydactyly Atrial septal defect Syndactyly Hypertonia Wide nasal bridge Spasticity Redundant skin Cataract Narrow mouth Pes planus Brittle hair Hip dislocation High, narrow palate Polymicrogyria Narrow forehead Pachygyria Visual impairment Pectus carinatum Coarse hair Wide anterior fontanel Protruding ear Hearing impairment Agenesis of corpus callosum Cerebellar hypoplasia Ataxia Kyphosis Congenital megaureter Conical incisor Slender metacarpals Short iliac bones Asthma Triangular face Hypoplasia of the maxilla Everted lower lip vermilion Acetabular spurs Prominent forehead Clinodactyly Arachnodactyly Flexion contracture Blepharophimosis Clinodactyly of the 5th finger Abnormality of the alveolar ridges Constipation Hydronephrosis Macrotia Intellectual disability, severe Cone-shaped epiphyses of phalanges 2 to 5 Respiratory distress Congenital contracture Glenoid fossa hypoplasia Long metacarpals Sclerocornea Stridor Hallux valgus Capitate-hamate fusion Knee flexion contracture Femoral bowing Narrow nasal bridge Elbow flexion contracture High forehead Thin ribs Dislocated radial head Joint contracture of the hand Dental crowding Abnormal eyebrow morphology Single umbilical artery Laryngomalacia Choanal stenosis Bowing of the long bones Hypoplastic scapulae Eclabion Lateral clavicle hook Long hallux Ambiguous genitalia Ulnar bowing Convex nasal ridge Underdeveloped nasal alae Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Cardiac arrest Prominent nasal bridge Gastroesophageal reflux Spotty hypopigmentation Cerebellar vermis hypoplasia Status epilepticus Progressive cerebellar ataxia Joint laxity Osteopenia Dilatation Olivopontocerebellar hypoplasia Hypoplastic aortic arch Long neck Scapular winging Otosclerosis Overlapping fingers Epiphyseal stippling Long fingers Broad hallux Ectopic kidney Overlapping toe 2-3 toe syndactyly Coxa vara Slurred speech Overfolded helix Premature rupture of membranes High nonceruloplasmin-bound serum copper Small, conical teeth Excessive skin wrinkling on dorsum of hands and fingers Multiple plantar creases Slender long bones with narrow diaphyses Multiple palmar creases Atrial septal dilatation Abnormality of the cheek Palmoplantar cutis laxa Nasal speech Short nail Deep plantar creases Hypoplasia of the musculature Recurrent sinopulmonary infections Deep palmar crease Premature skin wrinkling Fragile nails Delayed cranial suture closure Self-injurious behavior Sacral dimple Thin upper lip vermilion Sparse scalp hair Arachnoid cyst Infantile spasms Short middle phalanx of finger Abnormality of the hand Deep philtrum Plagiocephaly Finger clinodactyly Stereotypy Thick lower lip vermilion Large forehead Hip dysplasia Tapered finger Short foot Small hand Short philtrum Attention deficit hyperactivity disorder Anxiety Conductive hearing impairment High anterior hairline Tics Microretrognathia Common atrium Aortic valve stenosis Wide intermamillary distance Hypopigmentation of the skin Wide nose Bulbous nose Long face Ichthyosis Toe syndactyly Abnormal cardiac septum morphology Periventricular leukomalacia Muscular hypotonia of the trunk Deeply set eye Polyhydramnios Cerebral cortical atrophy Congestive heart failure Ventriculomegaly Testicular torsion Diaphragmatic eventration Abnormal oral frenulum morphology Nail dystrophy Abnormality of bone marrow cell morphology Macrocephaly Dolichocephaly Retinopathy Coloboma Neonatal hypotonia Microphthalmia Renal insufficiency Blindness Nystagmus Retinal dystrophy Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Short chin Abnormality of the foot Renal cyst Ventricular hypertrophy Hypoplasia of the brainstem Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis External genital hypoplasia Molar tooth sign on MRI Chorioretinal coloboma Abnormal cerebellum morphology Patent foramen ovale Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Renal dysplasia Encephalocele Apraxia Left ventricular hypertrophy Delayed myelination Agenesis of cerebellar vermis Distal muscle weakness Broad-based gait Choreoathetosis Fine hair Generalized-onset seizure Inability to walk Dysmetria Talipes Joint stiffness Sparse eyelashes Gait ataxia Hyporeflexia Dystonia Cerebellar atrophy Tremor Optic atrophy Hyperreflexia Abnormal autonomic nervous system physiology Sparse eyebrow Bifid uvula Sensorineural hearing impairment Macroglossia Severe global developmental delay Hypertrophic cardiomyopathy Patent ductus arteriosus Obesity Cardiomyopathy Short neck Oxycephaly Hand clenching Severe intrauterine growth retardation Prominent supraorbital ridges Growth abnormality Large fontanelles Flat face Confusion Feeding difficulties in infancy Central apnea Abnormal renal physiology Neonatal short-limb short stature Hand polydactyly Thoracic hypoplasia Hypoplastic left heart Hydroureter Dextrocardia Mild short stature Hypoplastic toenails Cubitus valgus Abnormality of pelvic girdle bone morphology Agenesis of permanent teeth Short long bone Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Short ribs Abnormality of the hair Short thorax Atrioventricular canal defect Heterotopia Acute leukemia Abnormal oral mucosa morphology Horizontal ribs Epispadias Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Aplasia/Hypoplasia of the lungs Disproportionate short stature Postaxial foot polydactyly Upper limb undergrowth Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Abnormal heart valve morphology Situs inversus totalis Limb undergrowth Abnormal corpus callosum morphology Dysgenesis of the cerebellar vermis Poor speech Dementia Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Episodic tachypnea Redundant neck skin Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Accessory oral frenulum Rotary nystagmus Intellectual disability, profound Thick hair Renal agenesis Abnormality of the kidney Nail dysplasia Ectodermal dysplasia Hypodontia Cleft upper lip Micromelia Genu valgum Narrow chest Severe short stature Psychomotor deterioration Delayed skeletal maturation Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Abnormal subcutaneous fat tissue distribution Neonatal wrinkled skin of hands and feet


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