Failure to thrive, and Low-set, posteriorly rotated ears

Diseases related with Failure to thrive and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Failure to thrive and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Other less relevant matches:

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Cerebrooculofacioskeletal syndrome-4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Micrognathia Growth delay Microcephaly Downslanted palpebral fissures Strabismus Muscular hypotonia Wide nasal bridge Intrauterine growth retardation Epicanthus Depressed nasal bridge Hypoplasia of the corpus callosum Polymicrogyria Small for gestational age Short neck Failure to thrive in infancy Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Smooth philtrum Toe syndactyly Kyphoscoliosis High palate Generalized hypotonia Small face Cryptorchidism Nystagmus Hypospadias Gynecomastia EEG abnormality Abnormal heart morphology Wide mouth Feeding difficulties in infancy Dysphagia Cognitive impairment Infantile muscular hypotonia High, narrow palate Macrotia Thick vermilion border Hyperkeratosis Cerebellar hypoplasia Intellectual disability, mild Delayed speech and language development Camptodactyly of finger Scoliosis Recurrent respiratory infections Short philtrum Hypermetropia Autistic behavior Lipoatrophy Mandibular prognathia Umbilical hernia Broad forehead Frontal bossing Intellectual disability, moderate Generalized hirsutism Cutis laxa Reduced subcutaneous adipose tissue Hypoglycemia Cataract Cleft palate Neonatal hypotonia Microphthalmia Asymmetry of the breasts Thick nasal alae Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Absence of subcutaneous fat Female pseudohermaphroditism Postprandial hyperglycemia Elfin facies Adipose tissue loss Prominent nipples Central sleep apnea Flexion contracture Fasting hypoglycemia Hyperreflexia Abnormality of the skeletal system Hypertonia Hypogonadism Pneumonia Respiratory failure Expressive language delay Deeply set eye Abnormality of the nervous system Camptodactyly Blepharophimosis Long penis Ovarian cyst Prominent nasal bridge Cachexia Hirsutism Abdominal distention Nail dysplasia Type II diabetes mellitus Epidermal acanthosis Thick lower lip vermilion Hypertrichosis Cholestasis Gingival overgrowth Hepatic fibrosis Insulin resistance Acanthosis nigricans Hyperinsulinemia Concave nasal ridge Precocious puberty Clitoral hypertrophy Large hands Hyperglycemia Glucose intolerance Decreased muscle mass Hypermelanotic macule Severe intrauterine growth retardation Hearing abnormality Thickened nuchal skin fold Severe failure to thrive Long foot Retinopathy Hip dislocation Abnormal renal morphology Trigonocephaly Triangular face Bifid uvula Delayed myelination Dental malocclusion Abnormality of the cardiovascular system Poor fine motor coordination Dental crowding Stereotypy Hypercholesterolemia Sleep apnea Patent foramen ovale Language impairment Attention deficit hyperactivity disorder Oral-pharyngeal dysphagia Abnormality of dental morphology Abnormality of the pharynx Open bite Hypocholesterolemia Dysphasia High hypermetropia Poor eye contact Bipolar affective disorder Echolalia Abnormality of chromosome segregation Speech apraxia Hypoplasia of the maxilla Abnormality of the kidney Arthrogryposis multiplex congenita Flexion contracture of toe Abnormality of the genital system Joint contracture of the hand Congenital hip dislocation Knee flexion contracture Rocker bottom foot Flared metaphysis Brisk reflexes Cortical gyral simplification Slender long bone Dislocated radial head Bilateral microphthalmos Wrist flexion contracture Premature closure of fontanelles Apnea Hearing impairment Feeding difficulties Dysarthria Myopia Abnormality of the dentition Abnormality of cardiovascular system morphology Hyperactivity Autism Hypothyroidism Gastroesophageal reflux Anxiety Prominent nasal tip Adducted thumb Recurrent infections Proptosis Everted lower lip vermilion Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Visual impairment Abnormality of the nail Syndactyly Abnormality of the hair Wide anterior fontanel Retrognathia Irritability Dry skin Cutaneous photosensitivity Vertebral segmentation defect Cerebral visual impairment Bicuspid aortic valve Optic nerve hypoplasia Bilateral cryptorchidism Profound global developmental delay Anemia Ventricular septal defect Atrial septal defect Splenomegaly Immunodeficiency Patent ductus arteriosus Short distal phalanx of finger Pierre-Robin sequence Abnormal dermatoglyphics Hematuria Decreased skull ossification Behavioral abnormality Severe global developmental delay Arachnodactyly Interphalangeal joint contracture of finger Long fingers Central apnea Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Long eyelashes in irregular rows Shagreen patch Prematurely aged appearance Coxa valga Hypertension Talipes equinovarus Long philtrum Brittle hair Narrow mouth Redundant skin Osteopenia Thin upper lip vermilion Reduced number of teeth Microtia Rhizomelia Progressive microcephaly Abnormality of the liver Neutropenia Severe short stature Colpocephaly Wide intermamillary distance Hypsarrhythmia Short palpebral fissure Heterotopia Nephrolithiasis Low anterior hairline Plagiocephaly Long eyelashes Abnormality of neuronal migration Hallux valgus Prominent metopic ridge Broad philtrum Talipes calcaneovalgus Hypocalcemia Periventricular gray matter heterotopia Phimosis Aplasia/Hypoplasia of the ribs Abnormality of the cerebral cortex Low-set ears Decreased fetal movement Skeletal muscle atrophy Lactic acidosis Coloboma Hernia Inguinal hernia Delayed skeletal maturation Highly arched eyebrow Nasal speech Aciduria Pyrimidine-responsive megaloblastic anemia Hip dysplasia Meningitis Aminoaciduria Abnormality of the ureter Abnormal toenail morphology Anisocytosis Megaloblastic anemia Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Reduced orotidine 5-prime phosphate decarboxylase activity Dysmetria Thick eyebrow Sparse hair Macrocephaly Obesity Clinodactyly Prominent forehead Mitochondrial respiratory chain defects Gait ataxia Joint laxity Dolichocephaly Abnormality of the cerebral white matter Cystinuria Receptive language delay


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