Failure to thrive, and Low posterior hairline

Diseases related with Failure to thrive and Low posterior hairline

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

Top matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Other less relevant matches:

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

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Failure to thrive and Low posterior hairline

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Ptosis Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Webbed neck

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Postnatal growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Patent ductus arteriosus Abnormality of cardiovascular system morphology Long philtrum Abnormal facial shape Posteriorly rotated ears Strabismus High palate Bicuspid aortic valve Cognitive impairment Low-set, posteriorly rotated ears Broad forehead Cardiomyopathy Edema Abnormal heart morphology Anteverted nares Leukemia Pulmonic stenosis Generalized hypotonia Seizures Abnormality of the foot Pectus excavatum Retrognathia Highly arched eyebrow Sparse hair Gastroesophageal reflux Delayed skeletal maturation Intrauterine growth retardation Iris coloboma Hyperpigmentation of the skin High forehead Motor delay Abnormality of the sternum Wide intermamillary distance High, narrow palate Myopia Wide nasal bridge Triangular face Hypogonadism Ventricular hypertrophy Short nose Pachygyria Pointed chin Intellectual disability, mild Muscular hypotonia Depressed nasal bridge Dolichocephaly Conductive hearing impairment Umbilical hernia Prominent forehead Left ventricular hypertrophy Hyperactivity Delayed speech and language development Cafe-au-lait spot Ventricular septal defect Failure to thrive in infancy Sensorineural hearing impairment Low anterior hairline Macrocephaly Polyhydramnios Brachydactyly Hypertrophic cardiomyopathy Nystagmus Abnormal cardiac septum morphology Overfolded helix Proptosis Hernia

Rare Symptoms - Less than 30% cases

Aortic aneurysm Natal tooth Rib fusion Abnormal eyelid morphology Arnold-Chiari type I malformation Abnormality of the thorax Abnormality of metabolism/homeostasis Pterygium Heterotopia Scrotal hypoplasia Abnormality of the vertebral column Pulmonary hypoplasia Sclerocornea Oral cleft Abnormality of movement Facial asymmetry Clinodactyly Arthrogryposis multiplex congenita Protruding tongue Patent foramen ovale Frontal bossing Optic atrophy Inguinal hernia Loose anagen hair Dilatation Ventriculomegaly Dermal translucency Aortic valve stenosis Short palpebral fissure Lymphoma Hoarse voice Everted lower lip vermilion Thick vermilion border Cleft upper lip Superior pectus carinatum Smooth philtrum Redundant skin Microtia Gait disturbance Intellectual disability, severe Abnormality of the pinna Feeding difficulties in infancy Bilateral ptosis Thin upper lip vermilion Mandibular prognathia Micropenis Brachycephaly Agenesis of corpus callosum Midface retrusion Hypertrichosis Microphthalmia Vomiting Prominent fingertip pads Coarse hair Joint stiffness Hypoglycemia Reduced factor XII activity Cerebral cortical atrophy Abnormal bleeding Coarse facial features Telecanthus Wide mouth Chylothorax Thin vermilion border Wide nose Bruising susceptibility Joint hypermobility Hypermetropia Lissencephaly Pectus carinatum Attention deficit hyperactivity disorder Acute lymphoblastic leukemia Osteoporosis Poor suck Craniosynostosis Lymphedema Hydrocephalus Short attention span Deep philtrum Abnormality of the mouth Radial deviation of finger Pleural effusion Cubitus valgus Mitral regurgitation Neurodevelopmental delay Juvenile myelomonocytic leukemia Hypotrichosis Relative macrocephaly Cyanosis Trigonocephaly Astigmatism Respiratory distress Coarctation of aorta Depressed nasal tip Splenomegaly Thrombocytopenia Cleft palate Hypertension Sparse scalp hair Long palpebral fissure Arnold-Chiari malformation Macrotia Carious teeth Reduced prothrombin activity Thin skin Hypocalcemia Abnormality of the intervertebral disk Abnormality of the testis Reduced factor X activity Hypoplastic toenails Abnormality of the fingernails Abnormal palate morphology Infantile muscular hypotonia Abnormal location of ears Nasal speech Increased intracranial pressure Optic nerve hypoplasia Hypoplasia of olfactory tract Broad fingertip Abnormality of the nasal bridge Muscle weakness Abnormality of the subarachnoid space Aplasia/Hypoplasia of the eyebrow Right bundle branch block Dandy-Walker malformation Enlarged cisterna magna Abnormally large globe Abnormality of refraction Slow-growing hair Hypomagnesemia Fragile nails Hiatus hernia Peripheral pulmonary artery stenosis Hypothyroidism Abnormality of the elbow Broad neck Ichthyosis Eczema Abnormality of the mediastinum Growth hormone deficiency Thickened helices Respiratory insufficiency Abnormality of the pulmonary artery Atopic dermatitis Freckling Abnormality of coagulation Thick lower lip vermilion Redundant neck skin Reduced factor IX activity Underdeveloped supraorbital ridges Hypoplasia of the corpus callosum Clumsiness Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Myelodysplasia Elevated alkaline phosphatase Azoospermia Plagiocephaly Amblyopia Primary amenorrhea Male infertility Amenorrhea Dental malocclusion Abdominal distention Kyphoscoliosis Abdominal pain Rod-cone dystrophy Constipation Headache Congestive heart failure Fever Cystic hygroma Neuroblastoma Pain Optic disc hypoplasia Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Panuveitis Neurofibrosarcoma Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Abnormality of blood and blood-forming tissues Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Cataract Neoplasm Abnormality of the dentition Microdontia Abnormality of vision Abnormality of the metacarpal bones Oligodontia Generalized hirsutism Wide anterior fontanel Recurrent urinary tract infections Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Oligohydramnios Convex nasal ridge Tricuspid regurgitation Intestinal malrotation Sepsis Hypoplasia of the maxilla Short distal phalanx of finger Synophrys Platyspondyly Abnormality of the eye Narrow mouth Cerebellar hypoplasia Syndactyly Large hands Bilateral cryptorchidism Aplasia/Hypoplasia of the nasal bone Absent nipple Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Recurrent aspiration pneumonia Absence of subcutaneous fat Hypoplasia of the musculature Pneumothorax Deep palmar crease Anonychia Prominent superficial veins Premature skin wrinkling Coronal craniosynostosis Abnormality of the skull Turricephaly Pulmonary lymphangiectasia Hypoplastic nipples Prematurely aged appearance Anteriorly placed anus Reduced subcutaneous adipose tissue Arteritis Retinopathy Monocytosis Cerebral cortical hemiatrophy Nevus Long face Finger syndactyly Camptodactyly of finger Skeletal muscle atrophy Euryblepharon Osteochondrosis Retinoschisis Hypoplasia of penis Duplication of thumb phalanx Macrogyria Subcortical cerebral atrophy Abnormality of the upper urinary tract Optic nerve coloboma Echolalia Heterochromia iridis Short columella Limitation of joint mobility Spina bifida occulta Palpebral edema Antecubital pterygium Dystonia Abnormality of the skeletal system Flexion contracture Absence of labia majora Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Popliteal pterygium Neonatal respiratory distress Multiple pterygia Abnormality of the tongue Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Hearing abnormality Aplasia/Hypoplasia of the skin Vertebral segmentation defect Transient ischemic attack Prominent metopic ridge Cleft lip Insulin resistance Prelingual sensorineural hearing impairment Neonatal hyperbilirubinemia Concave nasal ridge Severe postnatal growth retardation Severe intrauterine growth retardation Truncal obesity Congenital sensorineural hearing impairment Decreased body weight Congenital bilateral ptosis Bilateral sensorineural hearing impairment Delayed eruption of teeth Single transverse palmar crease Small for gestational age Osteopenia Severe short stature Clinodactyly of the 5th finger Behavioral abnormality Small placenta Hyperkeratosis Long nose Full cheeks Dysphasia Aphasia Delayed cranial suture closure Hydroureter Mutism Large fontanelles Specific learning disability Prominent nose Microcornea Abnormality of the cardiovascular system Polymicrogyria Hydronephrosis Skeletal dysplasia Palmoplantar cutis laxa Graves disease Curly hair Systemic lupus erythematosus Hyperextensible skin Weight loss Camptodactyly Broad toe Aplasia cutis congenita of scalp Myopathy Hypoplastic pubic rami Rib segmentation abnormalities Abnormality of the gallbladder Abnormal lip morphology Abnormality of the philtrum Tethered cord Aplasia/Hypoplasia of the nipples Joint laxity Abdominal situs inversus Short hallux High anterior hairline Calvarial skull defect Aplasia/Hypoplasia of the lungs Megalocornea Abnormality of the immune system Abnormal heart valve morphology Hepatosplenomegaly Falls Preaxial hand polydactyly Proximal placement of thumb Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Decreased muscle mass Cholelithiasis Ascites Torticollis Vasculitis Bilateral single transverse palmar creases Hydrops fetalis Fine hair Epistaxis Hip dysplasia Esotropia Disproportionate tall stature Aplasia/Hypoplasia of the cerebellum Coloboma Inverted nipples Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Retinal coloboma Widow's peak Esophageal atresia Small posterior fossa Tracheoesophageal fistula Chorioretinal coloboma Ectropion Abnormality of the outer ear Spontaneous abortion Postnatal microcephaly High myopia Bifid uvula Duplication of phalanx of hallux Ataxia Chronic otitis media Congenital diaphragmatic hernia Abnormality of the urinary system Hemangioma Sacral dimple Abnormal vertebral morphology Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Split hand Decreased fetal movement Talipes equinovarus Hypodontia Downturned corners of mouth Arachnodactyly Short philtrum Abnormality of the kidney Recurrent respiratory infections Hypospadias Kyphosis Postductal coarctation of the aorta


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