Failure to thrive, and Midface retrusion

Diseases related with Failure to thrive and Midface retrusion

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


Top matches:

High match LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

High match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

High match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

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Other less relevant matches:

High match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

High match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match AXENFELD-RIEGER SYNDROME


Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

High match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

High match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Midface retrusion

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Malar flattening Depressed nasal bridge Seizures Abnormal facial shape Intellectual disability Micrognathia Prominent forehead Hernia Hyperactivity Hearing impairment Intrauterine growth retardation Deeply set eye Hypertonia Low-set ears Feeding difficulties Redundant skin

Rare Symptoms - Less than 30% cases


Congenital hip dislocation Constipation Frontal bossing Scoliosis Ataxia Hypoplasia of the corpus callosum Absent speech Behavioral abnormality Mandibular prognathia Congenital diaphragmatic hernia Immunodeficiency Hypoplasia of the maxilla Posteriorly rotated ears Tall stature Patent ductus arteriosus Muscular hypotonia of the trunk Downslanted palpebral fissures Ventriculomegaly High palate Hypertrophic cardiomyopathy Prominent superficial veins Joint hypermobility Anteverted nares Cardiomyopathy Wide nasal bridge Attention deficit hyperactivity disorder Motor delay Broad forehead Muscular hypotonia Bulbous nose Intellectual disability, mild Abnormal heart morphology Thin vermilion border Clinodactyly Cirrhosis Scarring Proximal muscle weakness Obesity Elevated hepatic transaminase Elevated serum creatine phosphokinase Thin upper lip vermilion Abnormality of the liver Carcinoma Myalgia Hypoglycemia Cerebellar vermis hypoplasia Congestive heart failure Telecanthus Anal stenosis Bilateral sensorineural hearing impairment Microdontia Hypodontia Aniridia Everted lower lip vermilion Posterior embryotoxon Hypoplasia of the iris Ectopia pupillae Concave nasal ridge Peters anomaly Anterior segment developmental abnormality Abnormal cardiac septum morphology Proptosis Myopathy Distal amyotrophy Glaucoma Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Rieger anomaly Aplasia/Hypoplasia of the iris Ureteral stenosis Hypoplastic iris stroma Retinal vein occlusion Muscle weakness Pain Hepatomegaly Skeletal muscle atrophy Hepatic failure Recurrent corneal erosions Broad nasal tip Narrow face Hypermetropia Ophthalmoplegia Joint hyperflexibility Long face Parkinsonism Chorea Delayed myelination Open mouth Choreoathetosis Clumsiness Aganglionic megacolon Stereotypy Exotropia External ophthalmoplegia Irritability Cachexia Language impairment Mask-like facies Athetosis Myopathic facies Self-mutilation Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Autistic behavior Feeding difficulties in infancy Full cheeks Skeletal myopathy Otitis media Cardiomegaly Epistaxis Ventricular hypertrophy Hypertriglyceridemia Progressive muscle weakness Hepatic fibrosis Decreased liver function Sinusitis Hyperlipidemia Progressive hearing impairment Recurrent sinusitis Ketosis Abnormality of cardiovascular system morphology Micronodular cirrhosis Intellectual disability, moderate Periportal fibrosis Ketotic hypoglycemia Spasticity Ptosis Cognitive impairment Delayed speech and language development Gait disturbance Intellectual disability, severe Vomiting Dystonia Abnormality of metabolism/homeostasis Pes cavus Neonatal hypotonia Aggressive behavior Hypospadias Osteoporosis Atrial septal defect Respiratory insufficiency Carious teeth Abnormality of skin pigmentation Pancytopenia Intellectual disability, profound Fine hair Bone marrow hypocellularity CNS hypomyelination Oral leukoplakia Cleft palate Anemia Ventricular septal defect Respiratory distress Sparse hair Jaundice Conductive hearing impairment Microtia Choanal atresia Atresia of the external auditory canal Ectopic kidney Macrocytic anemia Broad neck Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Mandibulofacial dysostosis Nail dystrophy Cerebellar hypoplasia Arthritis Abnormality of the thymus Recurrent infections Pneumonia Eczema Abnormal lung morphology Wide anterior fontanel Failure to thrive in infancy Emphysema Chromosome breakage Mild global developmental delay Bronchiolitis Dermal translucency Increased sensitivity to ionizing radiation Alopecia Bronchiolitis obliterans Cataract Acidosis Wide mouth Dilated cardiomyopathy Facial asymmetry Lactic acidosis Gliosis Increased serum lactate Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Diarrhea Blepharophimosis Sensorineural hearing impairment Protruding ear Large for gestational age Disproportionate tall stature Epicanthus Abnormality of the skeletal system Hydrocephalus Agenesis of corpus callosum Brachycephaly Gastroesophageal reflux Osteopenia Joint laxity Postnatal growth retardation Hip dislocation Pointed chin Recurrent fractures Triangular face Hypotelorism Blue sclerae Bowing of the long bones Large fontanelles Cutis laxa Growth abnormality Premature skin wrinkling Colpocephaly Narrow nasal ridge Abnormal glycosylation Lissencephaly Hypoplasia of penis Coloboma Trichorrhexis nodosa Small for gestational age Anal atresia Abdominal distention Sepsis Sloping forehead Abnormal intestine morphology Long nose Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Villous atrophy Intractable diarrhea Overgrowth Secretory diarrhea Vaginal fistula Short neck Cerebellar atrophy Short nose Inguinal hernia Clinodactyly of the 5th finger Micropenis Autism Narrow mouth High forehead Wide nose Underfolded superior helices



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Apnea, related diseases and genetic alterations Depressed nasal bridge and Hypertriglyceridemia, related diseases and genetic alterations Spasticity and Erythema, related diseases and genetic alterations Breast carcinoma and Joint stiffness, related diseases and genetic alterations Cleft palate and High, narrow palate, related diseases and genetic alterations

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