Failure to thrive, and Flat face

Diseases related with Failure to thrive and Flat face

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

Top matches:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

High match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Flat face

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Short stature Long philtrum Wide nasal bridge Malar flattening Epicanthus Growth delay Respiratory insufficiency Short nose Cataract Intrauterine growth retardation Cryptorchidism Abnormal facial shape Scoliosis High palate Hepatomegaly High forehead Depressed nasal bridge Strabismus Hearing impairment Narrow mouth Inguinal hernia Polymicrogyria Flexion contracture Anteverted nares Abnormality of the skeletal system Talipes equinovarus Areflexia Feeding difficulties Postnatal growth retardation Abnormal heart morphology Short neck Blepharophimosis Cleft palate Hip dislocation Kyphoscoliosis

Rare Symptoms - Less than 30% cases

Hypospadias Macrocephaly Recurrent infections Behavioral abnormality Hepatosplenomegaly Jaundice Umbilical hernia Fever Protruding tongue Hypertrophic cardiomyopathy Arthrogryposis multiplex congenita Diarrhea Pulmonary hypoplasia Rhizomelia Pterygium Severe short stature Cerebral cortical atrophy Epiphyseal stippling Intellectual disability, moderate Short philtrum Webbed neck Round face Congenital contracture Spina bifida occulta Adducted thumb Talipes Small for gestational age Camptodactyly Telecanthus Short palpebral fissure Severe global developmental delay Prominent forehead Ptosis Distal arthrogryposis Cerebellar atrophy Congestive heart failure Anemia Frontal bossing Large fontanelles Depressed nasal ridge Wide anterior fontanel Feeding difficulties in infancy Polyneuropathy Dry skin Hernia Sensorineural hearing impairment Downslanted palpebral fissures Ataxia Single transverse palmar crease Oligohydramnios Aciduria Increased serum lactate Premature birth Pulmonary arterial hypertension Lactic acidosis Asymmetry of the thorax Camptodactyly of finger Wide mouth Low frustration tolerance Interphalangeal joint contracture of finger Aplasia/Hypoplasia of the corpus callosum Intention tremor 3-Methylglutaconic aciduria Spasticity Pain Abnormal pulmonary valve morphology Anteverted ears Gastroparesis Hyperalaninemia Moderate global developmental delay Microretrognathia Abnormal aortic valve morphology Flat occiput Encephalitis Hyperammonemia Congenital, generalized hypertrichosis Leukoencephalopathy Abnormality of the kidney Retrognathia Neonatal hypotonia Small face Laryngotracheomalacia Abnormal external genitalia Dilatation of renal calices Abnormality of the sense of smell Neonatal short-limb short stature Narrow iliac wings Skin dimples 11 pairs of ribs Hypoplasia of olfactory tract Sex reversal Hypoplastic scapulae Hypoplastic iliac wing Pierre-Robin sequence Male pseudohermaphroditism Shallow orbits Glossoptosis Tracheobronchomalacia Hypoplastic cervical vertebrae Small forehead Tremor Intellectual disability, severe Acidosis Respiratory failure Aplasia/Hypoplasia of the ribs Arrhythmia Encephalopathy Cardiomyopathy Hypertension Small abnormally formed scapulae Shortening of all phalanges of the toes Poorly ossified cervical vertebrae Anterior tibial bowing Shortening of all phalanges of fingers Hyperextensibility at elbow Hypoplastic inferior ilia Absent sternal ossification Atrial septal defect Abnormal corpus callosum morphology Abnormality of the dentition Pectus excavatum Hyperactivity Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Short toe Clinodactyly Dilatation Gastroesophageal reflux Intellectual disability, mild Dysphagia Delayed speech and language development Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Generalized hirsutism Brachycephaly Macrotia Fibular hypoplasia Thin vermilion border Highly arched eyebrow Tapered finger Growth hormone deficiency Wide nose Hypertrichosis Broad-based gait Thick eyebrow Long eyelashes Thin upper lip vermilion Stereotypy Facial asymmetry Synophrys Dolichocephaly Neurological speech impairment Aggressive behavior Anxiety Finger clinodactyly Coronal cleft vertebrae Abnormality of metabolism/homeostasis Cleft lip Ichthyosis Short middle phalanx of finger Pulmonic stenosis Congenital cataract Narrow nasal bridge Narrow nose Abnormality of the elbow Limitation of joint mobility Upslanted palpebral fissure Alopecia Depressed nasal tip Short attention span Broad philtrum Hirsutism Psychomotor deterioration Short distal phalanx of finger Limb undergrowth Multiple epiphyseal dysplasia Severe failure to thrive Narrow palpebral fissure Accelerated skeletal maturation Sacral dimple Delayed CNS myelination Concave nasal ridge Infantile muscular hypotonia Polysplenia Delayed gross motor development Congenital diaphragmatic hernia Sparse body hair Flared metaphysis Epiphyseal dysplasia Abnormality of the hand Abnormality of epiphysis morphology Abnormality of the metaphysis Bilateral ptosis Tracheomalacia Cubitus valgus Gonadal dysgenesis Lymphopenia Agammaglobulinemia Shawl scrotum Bronchitis Combined immunodeficiency Malnutrition Recurrent pneumonia Sinusitis Chronic bronchitis Bronchiectasis Otitis media Decreased antibody level in blood Sepsis Macroglossia Neurodegeneration Malabsorption Communicating hydrocephalus Cellular immunodeficiency Recurrent respiratory infections Abnormality of the liver Inverted nipples Abnormality of immune system physiology Cholestasis Dehydration Delayed myelination Thick vermilion border Abnormality of the pinna Abnormality of chromosome stability Proteinuria Elevated hepatic transaminase Thrombocytopenia Cerebral atrophy Impaired T cell function Abnormality of neutrophils Decrease in T cell count Respiratory tract infection Pneumonia Areflexia of lower limbs Decreased liver function Motor delay Very long chain fatty acid accumulation Esodeviation Hypocholesterolemia Steatorrhea Abnormal electroretinogram Abnormal bleeding Midface retrusion Retinal dystrophy Osteoporosis Rod-cone dystrophy Hyporeflexia Dysarthria Visual impairment Nystagmus Myopia Pes planus Immunodeficiency Growth abnormality Abnormal isoelectric focusing of serum transferrin Oxycephaly Severe intrauterine growth retardation Lipodystrophy Brittle hair Prominent supraorbital ridges Redundant skin Coarse hair Carious teeth Cutis laxa Congenital hip dislocation Pachygyria High myopia Dandy-Walker malformation Joint hypermobility Confusion Premature skin wrinkling Abnormal glycosylation Thin ribs Ventriculomegaly Polyhydramnios Proptosis Abnormality of cardiovascular system morphology Kyphosis Hydrocephalus Respiratory distress Stippled chondral calcification Conductive hearing impairment Intrahepatic biliary dysgenesis Brushfield spots Renal cortical microcysts Macrogyria Optic nerve dysplasia Generalized neonatal hypotonia Abnormality of the helix Skeletal dysplasia Hydronephrosis Metatarsus adductus Laryngomalacia Cystic hygroma Tibial bowing Femoral bowing Thoracic hypoplasia Bilateral talipes equinovarus Bowing of the legs Relative macrocephaly Short long bone Apnea Disproportionate short-limb short stature Short chin Multicystic kidney dysplasia Bowing of the long bones Ambiguous genitalia Recurrent fractures Narrow chest Palpebral edema Clitoral hypertrophy Mild proteinuria Underdeveloped nasal alae Rheumatoid arthritis Nasal speech Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Dental malocclusion Rocker bottom foot Arthritis Deeply set eye Mandibular prognathia Glaucoma Hypertonia Myopathy Muscle weakness Hypoplasia of the brainstem Mask-like facies Poor suck Ulnar deviation of the hand or of fingers of the hand Opacification of the corneal stroma Pigmentary retinopathy Renal cyst Splenomegaly Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Abnormal auditory evoked potentials Hip contracture Flexion contracture of toe Overbite Dimple chin Breech presentation Trismus Malignant hyperthermia Atrophy/Degeneration affecting the brainstem Elbow hypertrichosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Lethargy, related diseases and genetic alterations High palate and Premature birth, related diseases and genetic alterations Low-set ears and Microtia, related diseases and genetic alterations Cleft palate and Alzheimer disease, related diseases and genetic alterations