Failure to thrive, and Triangular face

Diseases related with Failure to thrive and Triangular face

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Other less relevant matches:

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microcephaly Long philtrum Growth delay Brain atrophy Hearing impairment Thick vermilion border Poor speech Prominent forehead Seizures Abnormality of the pinna Anteverted nares

Rare Symptoms - Less than 30% cases

Smooth philtrum Wide nose Bulbous nose Broad-based gait Downslanted palpebral fissures Muscular hypotonia Motor delay Cleft palate Hyporeflexia Microdontia Short chin Optic atrophy Babinski sign Talipes equinovarus Hyperreflexia Spasticity Apnea Hepatomegaly Wide mouth Depressed nasal bridge Thin vermilion border Pectus carinatum Micrognathia Hypoplasia of the corpus callosum Wide nasal bridge Malar flattening Strabismus Intrauterine growth retardation CNS hypomyelination Microtia Upslanted palpebral fissure Talipes Convex nasal ridge Joint stiffness Type II diabetes mellitus Aplasia/Hypoplasia of the pancreas Optic nerve hypoplasia Hyperglycemia Bilateral talipes equinovarus Reduced subcutaneous adipose tissue Cerebellar agenesis Severe intrauterine growth retardation Meconium ileus Overlapping fingers Secundum atrial septal defect Hypoglycemia Neonatal insulin-dependent diabetes mellitus Ileus Small earlobe Diabetes mellitus Overfolded helix Clinodactyly Delayed skeletal maturation Micropenis Long toe Gastroesophageal reflux Global brain atrophy Hypoplasia of the maxilla Elbow dislocation Slender long bone Mild global developmental delay Cerebellar hypoplasia Patellar aplasia Irregular epiphyses Hypoplasia of the capital femoral epiphysis Cryptorchidism Toe clinodactyly Birth length less than 3rd percentile Irregular femoral epiphysis Flexion contracture Obesity Prominent metopic ridge Leukopenia Anemia Aplasia/Hypoplasia of the skin Sparse and thin eyebrow Low anterior hairline Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Atresia of the external auditory canal Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Long nose Hypoplastic nipples Abnormality of the genital system Shawl scrotum Inverted nipples Taurodontia Skin tags Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of the face Depressed nasal ridge Macrocephaly Increased density of long bones Gait disturbance Frontal bossing Hydrocephalus Vomiting Splenomegaly Thrombocytopenia Hepatosplenomegaly Facial palsy Irritability Leukodystrophy Short femoral neck Osteopetrosis Increased head circumference Uncontrolled eye movements Hypertelorism Hypertrichosis Short neck Hypospadias Mandibular prognathia Rigidity Conductive hearing impairment Telecanthus Dry skin Hirsutism High, narrow palate Delayed eruption of teeth Ectodermal dysplasia Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Mutism Mitochondrial myopathy Progressive microcephaly Congenital sensorineural hearing impairment Postural instability Premature birth Dehydration Nephrolithiasis Hydrops fetalis Nephrocalcinosis Hypokalemia Hypercalciuria Glomerulosclerosis Polydipsia Hyponatremia Polyuria Small for gestational age Hyperaldosteronism Renal salt wasting Abnormally large globe Alkalosis Metabolic alkalosis Tubulointerstitial fibrosis Decreased glomerular filtration rate Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypernatriuria Mesangial hypercellularity Increased urinary potassium Stage 5 chronic kidney disease Protruding ear Fetal polyuria Large face High forehead Elevated hepatic transaminase Polymicrogyria Renal cyst Large fontanelles Wide anterior fontanel Decreased liver function Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Multiple renal cysts Severe failure to thrive Short stature Polyhydramnios Scoliosis Intellectual disability, severe Severe short stature Deeply set eye Anxiety Short philtrum Decreased body weight Widely spaced teeth Sensorineural hearing impairment Fatigue Edema Renal insufficiency Hypochloremia Hyperchloriduria Postnatal microcephaly Gastrointestinal dysmotility Acidosis Malabsorption Paresthesia Lactic acidosis Cirrhosis Delayed myelination Increased serum lactate Blue sclerae Exercise intolerance Ragged-red muscle fibers Glucose intolerance Exertional dyspnea Abnormal activity of mitochondrial respiratory chain Narrow mouth Nystagmus Skeletal muscle atrophy Abnormality of the skeletal system Hypertonia Short nose Absent speech Cerebral cortical atrophy Muscular hypotonia of the trunk Generalized tonic-clonic seizures Arachnodactyly Inability to walk Narrow forehead Dyspnea Myopathy Global glomerulosclerosis Abnormal cardiac septum morphology Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation High palate Delayed speech and language development Peripheral neuropathy Areflexia Abnormal heart morphology Constipation Gait ataxia Thin upper lip vermilion Joint laxity Abnormality of the foot Cardiomyopathy Unsteady gait Distal sensory impairment Sensory impairment Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Muscle weakness Abnormality of male external genitalia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Lissencephaly, related diseases and genetic alterations Epicanthus and Nephritis, related diseases and genetic alterations Ptosis and Neoplasm of the skin, related diseases and genetic alterations Peripheral neuropathy and Memory impairment, related diseases and genetic alterations