Failure to thrive, and Broad forehead

Diseases related with Failure to thrive and Broad forehead

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

Top matches:

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

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Other less relevant matches:

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

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

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

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

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Top 5 symptoms//phenotypes associated to Failure to thrive and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Delayed myelination Scoliosis Open mouth Prominent forehead Short nose Downslanted palpebral fissures Microcephaly Feeding difficulties Hypertelorism Frontal bossing Deeply set eye Joint laxity Osteopenia Constipation Abnormal facial shape Poor speech Abnormality of the skeletal system Redundant skin Hyperactivity Mandibular prognathia Behavioral abnormality Epicanthus Short stature Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Atrial septal defect Flexion contracture Cutis laxa Micrognathia Brachycephaly Low-set ears Spasticity Severe global developmental delay Cachexia Choreoathetosis Muscular hypotonia of the trunk Absent speech Dystonia Ptosis Triangular face Thin upper lip vermilion Bulbous nose Joint hypermobility Hip dislocation Generalized hirsutism Midface retrusion Malar flattening Growth delay Esotropia Narrow nasal ridge Ataxia Broad nasal tip Delayed gross motor development Hydrocephalus Gastroesophageal reflux Retrognathia Nystagmus Macrocephaly Language impairment Everted lower lip vermilion Cognitive impairment Aggressive behavior Speech apraxia Long face Stereotypy Intellectual disability, moderate Delayed speech and language development Irritability Attention deficit hyperactivity disorder Parkinsonism Hypermetropia Ophthalmoplegia Joint hyperflexibility Narrow face Athetosis Exotropia Mask-like facies Clumsiness Aganglionic megacolon External ophthalmoplegia Tall stature Chorea Pes cavus Autistic behavior Anxiety Bowing of the long bones Large fontanelles Congenital hip dislocation Growth abnormality Premature skin wrinkling Prominent superficial veins Colpocephaly Abnormal glycosylation Muscular hypotonia Motor delay Feeding difficulties in infancy Gait disturbance Intellectual disability, severe Vomiting Hypertonia Abnormality of metabolism/homeostasis Autism Self-mutilation Neonatal hypotonia Obesity Myopathic facies Urethral stenosis Chronic constipation Intellectual disability, profound Short philtrum Prominent nasal bridge Smooth philtrum Inability to walk Dyskinesia Small hand Tapered finger Sleep disturbance Brain atrophy Prominent nose Severe muscular hypotonia Posteriorly rotated ears Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Failure to thrive in infancy Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Appendicular hypotonia High forehead Encephalopathy Ileus Kyphoscoliosis Impaired social interactions Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices High palate Wide nasal bridge Glaucoma Hypothyroidism Polyhydramnios Hypoglycemia Cerebral atrophy Hirsutism Neutropenia Limb undergrowth Narrow forehead Nephrocalcinosis Congenital glaucoma Buphthalmos Congenital neutropenia Anteverted nares Short neck Blue sclerae Nevus Hypotelorism Neoplasm Low-set, posteriorly rotated ears Sparse hair Thick eyebrow Short distal phalanx of finger Wide anterior fontanel Abnormality of the hair Abnormality of the nail Abnormal dermatoglyphics Reduced number of teeth Brittle hair Long philtrum Reduced subcutaneous adipose tissue Lipoatrophy Prematurely aged appearance Decreased skull ossification Shagreen patch Long eyelashes in irregular rows Postnatal macrocephaly Focal-onset seizure Generalized myoclonic seizures Umbilical hernia Papule Neurological speech impairment Narrow nasal bridge Subcutaneous nodule Full cheeks Neoplasm of the skin Hypopigmented skin patches Melanoma Sarcoma Deep philtrum Melanocytic nevus Hypermelanotic macule Calvarial skull defect Pruritus Periorbital fullness Rhabdomyosarcoma Thick hair Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Abnormality of skin pigmentation Ventricular septal defect Pectus excavatum Hypoplasia of the maxilla Uplifted earlobe Apnea Delayed ability to walk Sleep apnea Laryngomalacia Cortical gyral simplification Tracheomalacia Obstructive sleep apnea Snoring Retrocerebellar cyst Relative macrocephaly Upslanted palpebral fissure Ventriculomegaly Drooling Agenesis of corpus callosum Osteoporosis Apraxia Postnatal growth retardation Protruding ear Round face Recurrent fractures Large forehead Respiratory distress Abnormal heart morphology Thin skin Microtia Hyperlordosis Camptodactyly Abnormal cardiac septum morphology Carious teeth Anal atresia Arachnodactyly Intestinal malrotation Coarctation of aorta Abnormality of the genital system Depressed nasal bridge Dental crowding Pointed chin Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Soft skin Narrow maxilla Tremor Profound static encephalopathy


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