Failure to thrive, and Pulmonary hypoplasia

Diseases related with Failure to thrive and Pulmonary hypoplasia

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

Top matches:

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

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 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Other less relevant matches:

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

High match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Decreased fetal movement Intrauterine growth retardation High palate Cryptorchidism Severe short stature Polyhydramnios Depressed nasal bridge Scoliosis Cleft palate Motor delay Talipes equinovarus Generalized muscle weakness Kyphoscoliosis Hearing impairment Pectus excavatum Low-set ears Abnormal facial shape Muscular hypotonia Intellectual disability Abnormality of cardiovascular system morphology Long philtrum Thin ribs Respiratory distress Ambiguous genitalia Brachydactyly Flexion contracture Ventricular septal defect Global developmental delay Microcephaly

Rare Symptoms - Less than 30% cases

Abnormality of the skeletal system Skeletal dysplasia Bowing of the long bones Cataract Limitation of joint mobility Limb undergrowth Congenital contracture Respiratory failure Apnea Arthrogryposis multiplex congenita Epicanthus Polymicrogyria Spina bifida occulta Short neck Seizures Patent ductus arteriosus Hydronephrosis Conductive hearing impairment Muscle weakness Flat face Webbed neck Pterygium Congenital diaphragmatic hernia Pulmonic stenosis Blepharophimosis Inguinal hernia Camptodactyly Abnormal heart morphology Hernia Flared metaphysis Hydrocephalus Atrial septal defect Disproportionate short-limb short stature Wide nasal bridge Hypoplastic spleen Ascites Microphthalmia Recurrent fractures Myopathy Short long bone Feeding difficulties Macrocephaly EMG: myopathic abnormalities Knee flexion contracture Narrow chest Waddling gait Long face Oral cleft Dilated cardiomyopathy Hepatomegaly Respiratory insufficiency due to muscle weakness Hyperlordosis Mildly elevated creatine phosphokinase Hypertrophic cardiomyopathy Femoral bowing Recurrent respiratory infections Cardiomyopathy Congestive heart failure Ptosis Cleft lip Cystic hygroma Gonadal dysgenesis Short palpebral fissure Depressed nasal ridge Fibular hypoplasia Epiphyseal dysplasia Wide anterior fontanel Shallow orbits Multicystic kidney dysplasia Short chin Laryngomalacia Relative macrocephaly Rhizomelia Glossoptosis Bowing of the legs Ichthyosis Tracheomalacia Bilateral talipes equinovarus Abnormality of the metaphysis Thoracic hypoplasia Tibial bowing Abnormality of epiphysis morphology Sparse body hair Short distal phalanx of finger Morphological abnormality of the gastrointestinal tract Epiphyseal stippling Redundant skin Polysplenia Concave nasal ridge Delayed CNS myelination Multiple epiphyseal dysplasia Coronal cleft vertebrae Hyperostosis Growth abnormality Slender long bone Bilateral cleft palate Hypocalcemia Cardiac arrest Progressive microcephaly Calcific stippling of infantile cartilaginous skeleton Oligohydramnios Abdominal distention Hypokinesia Aniridia Severe failure to thrive Thin clavicles Talipes High forehead Proptosis Kyphosis Ventriculomegaly Overtubulated long bones Aplasia/hypoplasia of the extremities Severe intrauterine growth retardation Ankyloglossia Lethal skeletal dysplasia Cloverleaf skull Decreased skull ossification Short hallux Asplenia Radial bowing Hip dislocation Hypoplastic iliac wing Male pseudohermaphroditism Low posterior hairline Vertebral segmentation defect Neonatal respiratory distress Aortic aneurysm Scrotal hypoplasia Abnormality of the dentition Pointed chin Hypoplasia of penis Aplasia/Hypoplasia of the skin Malar flattening Nevus Abnormality of metabolism/homeostasis Abnormality of movement Facial asymmetry Abnormality of the foot Abnormality of the sternum Intellectual disability, severe Finger syndactyly Popliteal pterygium Sensorineural hearing impairment Abnormality of skeletal morphology Axillary pterygium Pain Spasticity Antecubital pterygium Multiple pterygia Hearing abnormality Abnormality of the tongue Abnormal aortic valve morphology Frontal bossing Rib fusion Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Dolichocephaly Camptodactyly of finger Pierre-Robin sequence Neonatal short-limb short stature Hypoplasia of olfactory tract Tracheobronchomalacia Laryngotracheomalacia Abnormal external genitalia Dry skin Abnormality of the sense of smell Narrow iliac wings Congenital cataract Skin dimples Small face 11 pairs of ribs Sex reversal Hypoplastic scapulae Absence of labia majora Hypoplastic cervical vertebrae Small abnormally formed scapulae Telecanthus Strabismus Alopecia Hypogonadism Gait disturbance Downslanted palpebral fissures Skeletal muscle atrophy Cognitive impairment Shortening of all phalanges of the toes Absent sternal ossification Poorly ossified cervical vertebrae Anterior tibial bowing Shortening of all phalanges of fingers Upslanted palpebral fissure Cerebral cortical atrophy Severe global developmental delay Hypoplastic inferior ilia Umbilical hernia Hiatus hernia Micromelia Respiratory tract infection Frequent falls Falls Genu valgum Limb muscle weakness Cough Paralysis Feeding difficulties in infancy Narrow face Facial palsy Proximal muscle weakness Neonatal hypotonia Rigidity Retrognathia Pes cavus Joint contracture of the hand Foot dorsiflexor weakness Areflexia Facial diplegia Neck flexor weakness Slender build Breech presentation Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence EMG: neuropathic changes Infantile muscular hypotonia Hypoventilation Spinal rigidity Bulbar palsy Myopathic facies Mask-like facies Myotonia Akinesia Hyporeflexia Hypertonia Fetal distress Polydactyly Pancreatic fibrosis Lateral clavicle hook Thoracic dysplasia Preaxial polydactyly Short ribs Postaxial polydactyly Syndactyly Joint laxity Staring gaze Histiocytoid cardiomyopathy Increased serum lactate Metabolic acidosis Lactic acidosis EEG abnormality Acidosis Acetabular spurs Ophthalmoplegia Edema Ankle contracture Dysphagia Hyperreflexia Fatigable weakness of bulbar muscles Type 1 muscle fiber atrophy Flexion contracture of finger Reduced vital capacity Hip contracture Elbow flexion contracture Weak cry Calf muscle hypertrophy Poor suck Tented upper lip vermilion Reduced tendon reflexes Scapular winging Congenital hip dislocation Diaphragmatic paralysis Percussion myotonia Small for gestational age Duodenal stenosis Renal malrotation Pelvic kidney Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Diaphragmatic eventration Bilateral lung agenesis Bilateral microphthalmos Bicornuate uterus Abnormality of the uterus Pulmonary artery atresia Truncus arteriosus Hypoplasia of the uterus Pulmonary artery hypoplasia Right aortic arch with mirror image branching Anophthalmia Pneumonia Short philtrum Craniosynostosis Coarse facial features Osteopenia Micropenis Prominent forehead Clinodactyly Mild intrauterine growth retardation Hypospadias Short nose Anteverted nares Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Aplasia/Hypoplasia of the pancreas Rocker bottom foot Optic nerve hypoplasia Late-onset distal muscle weakness Cholestasis Hypoalbuminemia Tachypnea Abnormal intestine morphology Decreased liver function Lymphedema Large fontanelles Hepatic failure Abnormality of the renal tubule Abnormal cardiac septum morphology Dyspnea Hypothyroidism Thrombocytopenia Diarrhea Vomiting Anemia Protein-losing enteropathy Primary hypothyroidism Abnormality of the genitourinary system Bilateral sensorineural hearing impairment Horseshoe kidney Abnormality of the genital system Abnormal lung morphology Renal hypoplasia Intellectual disability, profound Coarctation of aorta Tetralogy of Fallot Abnormal isoelectric focusing of serum transferrin Intestinal malrotation Vesicoureteral reflux Pectus carinatum Protruding ear Abnormality of the kidney Brachycephaly Hypoplasia of the corpus callosum Pregnancy exposure


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