Failure to thrive, and Retrognathia

Diseases related with Failure to thrive and Retrognathia

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


Top matches:

High match SECKEL SYNDROME 4; SCKL4


Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

High match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

High match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

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Other less relevant matches:

High match SQUALENE SYNTHASE DEFICIENCY; SQSD


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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

High match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

High match AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY


Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Retrognathia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Feeding difficulties Hypoplasia of the corpus callosum Abnormal facial shape High palate Growth delay Intrauterine growth retardation Macrocephaly Irritability Spasticity Autism Prominent forehead Cryptorchidism Scoliosis Downslanted palpebral fissures Delayed speech and language development Micrognathia Hypertelorism Microretrognathia Arthrogryposis multiplex congenita Short palpebral fissure Low-set ears

Rare Symptoms - Less than 30% cases


Hypospadias Recurrent infections Mitral valve prolapse Visual impairment Depressed nasal bridge Pes planus Epicanthus Prominent nasal tip Polymicrogyria Edema Cleft palate Myopia Motor delay Muscular hypotonia of the trunk Short philtrum Wide nose Highly arched eyebrow Optic atrophy Scaphocephaly Wide intermamillary distance Small for gestational age Cataract Cerebral atrophy Nystagmus Cognitive impairment Abnormality of the skeletal system Hyperactivity Delayed gross motor development Relative macrocephaly Poor speech Short nose Strabismus Thick eyebrow Craniosynostosis Wide mouth Autistic behavior Prominent nasal bridge Narrow mouth Bruising susceptibility Arachnodactyly Proptosis High, narrow palate Premature birth Brachycephaly Oligohydramnios High myopia Kyphosis Tall stature Increased body weight Gastroesophageal reflux Thick vermilion border Pectus excavatum Long eyelashes Abnormality of metabolism/homeostasis Constipation Alopecia Feeding difficulties in infancy Blepharophimosis Hepatic failure Wide nasal base Recurrent fractures Decreased antibody level in blood Prominent occiput Dilatation Thoracic scoliosis Hypoventilation Chronic constipation Overlapping fingers Generalized edema Hand clenching Hypertension Cerebral palsy Hydrocephalus Lipodystrophy Cutis laxa Opisthotonus Ectopia lentis Brain atrophy Respiratory failure Acidosis Polyhydramnios Developmental regression Abnormal pyramidal sign Abnormality of the cerebral white matter Lactic acidosis Metabolic acidosis Tetraplegia Spastic tetraplegia Severe lactic acidosis Tetraparesis Leukodystrophy Severe muscular hypotonia Spastic tetraparesis Leukoencephalopathy Pendular nystagmus Loss of speech Abnormality of mitochondrial metabolism Episodic fever Hypoplasia of the brainstem Encephalopathy Primitive reflex Aortic aneurysm Hyperextensibility of the finger joints Agitation Aortic root aneurysm Hypertonia Atrial septal defect Hyperreflexia Flexion contracture Severe intrauterine growth retardation Narrow nose Progeroid facial appearance Entropion Pes valgus Psychomotor deterioration Ptosis Dural ectasia Narrow palm Prominent scalp veins Ventriculomegaly Respiratory distress Myopathy Progressive leukoencephalopathy Frontoparietal polymicrogyria Diffuse leukoencephalopathy Reduced subcutaneous adipose tissue Widely spaced teeth Hepatomegaly Right ventricular hypertrophy Congestive heart failure Mandibular prognathia Hip dysplasia Poor head control Congenital muscular dystrophy Multiple joint contractures High pitched voice Generalized amyotrophy Spinal rigidity Restrictive deficit on pulmonary function testing Large forehead Axial muscle weakness Muscle fiber atrophy Right ventricular failure Nocturnal hypoventilation Increased muscle lipid content Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Absent muscle fiber merosin Speech apraxia Delayed ability to walk Posteriorly rotated ears Anxiety High forehead Postnatal growth retardation Underdeveloped nasal alae Decreased body weight Severe failure to thrive 11 pairs of ribs Steep acetabular roof Behavioral abnormality Obesity Aggressive behavior Language impairment Intellectual disability, moderate Attention deficit hyperactivity disorder Broad forehead Broad nasal tip Delayed myelination Apraxia Open mouth Stereotypy Drooling Syndactyly Macrotia Muscular hypotonia Hypotelorism Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Long upper lip Ventricular septal defect Micropenis Gait ataxia Astigmatism Rhizomelia Round face Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Obstructive sleep apnea Broad femoral neck Hearing impairment Sensorineural hearing impairment Absence seizures Bifid uvula Low-set, posteriorly rotated ears Dystonia Toe syndactyly Dry skin Cutaneous photosensitivity Cerebral visual impairment Bicuspid aortic valve Optic nerve hypoplasia Bilateral cryptorchidism Profound global developmental delay Intellectual disability, severe Long philtrum Downturned corners of mouth Absent speech Agenesis of corpus callosum Thin upper lip vermilion Deeply set eye Telecanthus Abnormality of the pinna Protruding ear Neurological speech impairment Smooth philtrum Thin vermilion border Decreased palmar creases



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