Failure to thrive, and Spina bifida

Diseases related with Failure to thrive and Spina bifida

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

Top matches:

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Other less relevant matches:

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

Medium match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Medium match 3MC SYNDROME 1; 3MC1

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC SyndromeAlso see 3MC syndrome-2 (3MC2 ), caused by mutation in the COLEC11 gene (OMIM ), and 3MC syndrome-3 (3MC3 ), caused by mutation in the COLEC1 gene (OMIM ).

3MC SYNDROME 1; 3MC1 Is also known as michels syndrome, formerly|oculopalatoskeletal syndrome|craniosynostosis with lid anomalies

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 1; 3MC1

Top 5 symptoms//phenotypes associated to Failure to thrive and Spina bifida

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Growth delay Ptosis Long philtrum Generalized hypotonia Hypertelorism Seizures Cleft palate Conductive hearing impairment Malar flattening Patent ductus arteriosus Atrial septal defect Flexion contracture Muscular hypotonia Scoliosis Hearing impairment Spina bifida occulta Wide nasal bridge Myelomeningocele Cataract Congenital cataract Meningocele Cryptorchidism Limitation of joint mobility Talipes Cerebellar hypoplasia Hernia Ventricular septal defect Webbed neck Telecanthus Strabismus Respiratory distress Talipes equinovarus Low-set ears Cognitive impairment Intrauterine growth retardation Downslanted palpebral fissures Glaucoma Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Muscle weakness Underdeveloped supraorbital ridges Myopathy Hypertension Fatigue Hypoplasia of the brainstem Thrombocytopenia Respiratory insufficiency Cerebral calcification Short neck Hypogonadism Hypospadias Cleft lip Abnormality of the dentition Frontal bossing Depressed nasal bridge Neonatal respiratory distress Hypoplasia of penis Omphalocele Oral cleft Umbilical hernia Congenital contracture Short nose Pterygium Nasal speech Flat face Horseshoe kidney Anteverted nares Dental crowding Arthrogryposis multiplex congenita Clinodactyly of the 5th finger Kyphoscoliosis Inguinal hernia Supernumerary nipple Blepharophimosis Pulmonary hypoplasia Muscular hypotonia of the trunk Osteoporosis Acidosis Hepatomegaly Feeding difficulties Pulmonic stenosis Severe global developmental delay Hypertonia Lactic acidosis Aciduria Osteopenia Cleft soft palate Sloping forehead Organic aciduria Myoclonus Abnormal heart morphology Polysplenia Abnormality of the liver Small anterior fontanelle Polydactyly Elevated hepatic transaminase Hepatosplenomegaly Cerebral atrophy Syndactyly Respiratory tract infection Paradoxical respiration Rib gap Toe syndactyly Bulbous nose Thin vermilion border Hyperbilirubinemia Prominent metopic ridge Biparietal narrowing Pathologic fracture Bilateral talipes equinovarus Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Opacification of the corneal stroma Gingival overgrowth Hepatic failure Cholestasis Narrow forehead Postaxial hand polydactyly Specific learning disability Full cheeks Microcornea Downturned corners of mouth Postaxial polydactyly Posterior rib gap Anomalous rib insertion to vertebrae Calcaneal epiphyseal stippling Kyphosis Dyskinesia Renal cyst Narrow chest Cough Gastroesophageal reflux Polyhydramnios Posteriorly rotated ears Intestinal malrotation Renal agenesis Edema Anal atresia Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Multiple epiphyseal dysplasia Delayed CNS myelination Concave nasal ridge Severe failure to thrive Epiphyseal stippling Abnormality of the ribs Elbow flexion contracture Intrahepatic cholestasis Pierre-Robin sequence Anomalous tracheal cartilage Absent soft palate Absent uvula Short hard palate Mandibular aplasia Hydranencephaly Porencephalic cyst 11 pairs of ribs Missing ribs Bell-shaped thorax Congenital hip dislocation Glossoptosis Tracheomalacia Anal stenosis Short humerus Anteriorly placed anus Thoracic hypoplasia Ectopic kidney Atresia of the external auditory canal Multicystic kidney dysplasia Postaxial foot polydactyly Cerebellar cortical atrophy Thick upper lip vermilion Diarrhea Small hand Cleft upper lip Abnormality of eye movement Craniosynostosis Hydronephrosis Depressivity Intellectual disability, mild Abnormality of the skeletal system Highly arched eyebrow Abnormal facial shape Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Short foot Growth hormone deficiency Aplasia/Hypoplasia of the earlobes Conjunctival telangiectasia Single interphalangeal crease of fifth finger Skull asymmetry Caudal appendage Cranial asymmetry Epicanthus inversus Abnormal anterior chamber morphology Lambdoidal craniosynostosis Bilateral conductive hearing impairment Wide anterior fontanel Bilateral cleft lip and palate Diastasis recti Short 5th finger Coronal craniosynostosis Bilateral cleft lip Broad foot Radioulnar synostosis Sacral dimple Hypochromic microcytic anemia Brain neoplasm Acanthocytosis Schistocytosis Anemia Neoplasm Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Abnormality of cholesterol metabolism Micropenis Abnormal platelet morphology Flared metaphysis Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Obesity High forehead Osteosarcoma Abnormality of the genital system Protruding tongue Arrhythmia Microcytic anemia Aplasia/Hypoplasia of the eyebrow Radial deviation of finger Polycystic kidney dysplasia Short toe Recurrent respiratory infections Macroglossia Retrognathia Bruising susceptibility Neurological speech impairment Broad forehead Microtia Pectus carinatum Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Sparse body hair Polymicrogyria Epiphyseal dysplasia Depletion of mitochondrial DNA in muscle tissue Agenesis of corpus callosum Cerebellar atrophy Fever Irritability Generalized tonic-clonic seizures Metabolic acidosis Decreased fetal movement Abnormal muscle fiber protein expression Narrow mouth Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Prominent forehead Mandibular prognathia Cardiorespiratory arrest Underdeveloped nasal alae Mitral atresia Adducted thumb Dextrotransposition of the great arteries Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Dental malocclusion Encephalopathy Posteriorly placed anus Hip dislocation Small for gestational age Optic atrophy Ventriculomegaly Camptodactyly Arthritis Deeply set eye Right ventricular hypertrophy Cerebellar vermis hypoplasia Rheumatoid arthritis Cardiomyopathy Hypertrophic cardiomyopathy Dyspnea Partial agenesis of the corpus callosum Limb hypertonia Headache Congestive heart failure Hypoplasia of the fovea Enlarged cisterna magna Feeding difficulties in infancy Decreased skull ossification Dilation of lateral ventricles Myopia Motor delay Severe lactic acidosis Congenital microcephaly Nystagmus Spinal dysraphism Mental deterioration Stroke Mitochondrial myopathy Ragged-red muscle fibers Progressive microcephaly Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Tachypnea Lissencephaly Corneal dystrophy Exercise intolerance Cardiac arrest Hemiparesis Pulmonary arterial hypertension Esotropia Increased serum lactate Generalized muscle weakness Pulmonary artery hypoplasia Single ventricle Rhizomelia Multiple pterygia Sensorineural hearing impairment Absence of labia majora Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Abnormality of the tongue Spasticity Abnormal aortic valve morphology Rib fusion Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Hearing abnormality Aplasia/Hypoplasia of the skin Abnormality of the sternum Pain Dextrocardia Ciliary dyskinesia Dry skin Abnormality of epiphysis morphology Abnormality of the metaphysis Congenital diaphragmatic hernia Limb undergrowth Short distal phalanx of finger Temperature instability Ichthyosis Oligohydramnios Holoprosencephaly Cerebral cortical atrophy Upslanted palpebral fissure Severe short stature Alopecia Cardiomegaly Abnormality of metabolism/homeostasis Situs inversus totalis Intellectual disability, severe Vertebral segmentation defect Aortic aneurysm Rocker bottom foot Flexion contracture of toe Biliary atresia Common atrium Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Overbite Skeletal muscle atrophy Dimple chin Breech presentation Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Heterotaxy Abdominal situs inversus Scrotal hypoplasia Facial asymmetry Pointed chin Low posterior hairline Transposition of the great arteries Abnormal lung lobation Nevus Double outlet right ventricle Long face Abnormality of movement Abnormality of the foot Gait disturbance Dolichocephaly Finger syndactyly Camptodactyly of finger Asplenia Duodenal atresia Pulmonary artery atresia Pectus excavatum Abnormality of cardiovascular system morphology Abnormality of the occipital bone


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Pectus excavatum, related diseases and genetic alterations Congestive heart failure and Cerebellar atrophy, related diseases and genetic alterations Edema and Recurrent respiratory infections, related diseases and genetic alterations Strabismus and Spina bifida, related diseases and genetic alterations