Failure to thrive, and Hip dislocation

Diseases related with Failure to thrive and Hip dislocation

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Other less relevant matches:

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

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

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

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

High match BETHLEM MYOPATHY

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Failure to thrive and Hip dislocation

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Congenital hip dislocation

Uncommon Symptoms - Between 30% and 50% cases

Motor delay

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hypertelorism Scoliosis Midface retrusion High palate Intrauterine growth retardation Talipes equinovarus Muscular hypotonia Frontal bossing Ankle contracture Respiratory insufficiency due to muscle weakness Myopathy Decreased fetal movement Protruding ear Kyphoscoliosis Downslanted palpebral fissures Joint laxity Seizures Abnormality of the skeletal system Flexion contracture Muscle weakness Feeding difficulties

Rare Symptoms - Less than 30% cases

Generalized muscle weakness Mildly elevated creatine phosphokinase Cryptorchidism Low-set ears Pachygyria Feeding difficulties in infancy Hernia Ventriculomegaly Hypoplasia of the corpus callosum Strabismus Cerebellar atrophy Behavioral abnormality Short nose Proximal placement of thumb Anteverted nares Hearing impairment Redundant skin Inguinal hernia Epicanthus Postnatal growth retardation Large fontanelles Brachycephaly Cutis laxa Malar flattening Hydrocephalus Growth abnormality Joint hypermobility Micrognathia Lissencephaly Attention deficit hyperactivity disorder Narrow mouth Autism Hyperactivity Prominent forehead Gastroesophageal reflux Delayed speech and language development Rigidity Scarring Distal muscle weakness Elbow flexion contracture Torticollis Limb-girdle muscular dystrophy Respiratory failure Camptodactyly of finger Congenital muscular dystrophy Follicular hyperkeratosis Hyperkeratosis Peripheral neuropathy Spasticity Proximal muscle weakness Neonatal hypotonia Muscular dystrophy Hypertonia Intellectual disability, mild Hypospadias Glaucoma Anxiety Plantar flexion contractures Intellectual disability, moderate Autistic behavior Atrial septal defect Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Ptosis Pectus excavatum Recurrent respiratory infections Arthrogryposis multiplex congenita Abnormal isoelectric focusing of serum transferrin Macrocephaly Dandy-Walker malformation Encephalopathy Myopia Long philtrum Pes planus Cerebral atrophy Carious teeth Confusion Polymicrogyria Flat face High myopia Cataract Dystonia Wide anterior fontanel Coarse hair Prominent supraorbital ridges Brittle hair Lipodystrophy Severe intrauterine growth retardation Oxycephaly Hyperlordosis Polyhydramnios Scapular winging Dilated cardiomyopathy Spinal rigidity Growth hormone deficiency EMG abnormality Cachexia Abnormality of mitochondrial metabolism Increased variability in muscle fiber diameter Multiple joint contractures Generalized amyotrophy Difficulty climbing stairs Progressive proximal muscle weakness Joint stiffness Recurrent lower respiratory tract infections Proximal amyotrophy Type 1 muscle fiber predominance Slender build Muscle fiber necrosis Nocturnal hypoventilation Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Round face Facial palsy Ophthalmoplegia Poor suck Long face Pulmonary hypoplasia Waddling gait Knee flexion contracture Pancreatic fibrosis Reduced tendon reflexes EMG: myopathic abnormalities Tented upper lip vermilion Calf muscle hypertrophy Hyperhidrosis Nystagmus Weak cry Hip contracture Reduced vital capacity Flexion contracture of finger Type 1 muscle fiber atrophy Fatigable weakness of bulbar muscles Respiratory insufficiency Kyphosis Areflexia Postnatal microcephaly Exocrine pancreatic insufficiency Recurrent fractures Mandibular prognathia Osteopenia Deeply set eye Elevated serum creatine phosphokinase Cardiomyopathy Broad forehead Respiratory distress Bulbous nose Hypoplasia of the maxilla Agenesis of corpus callosum Triangular face Hypotelorism Blue sclerae Bowing of the long bones Skeletal muscle atrophy Congenital microcephaly Diffuse cerebral atrophy Blepharospasm Premature skin wrinkling Osteoporosis Paralysis Colpocephaly Clinodactyly of the 5th finger Limb-girdle muscle atrophy Congenital muscular torticollis Wide nasal bridge Diaphragmatic paralysis Abnormality of the mitochondrion Short neck Limb-girdle muscle weakness Congenital contracture Progressive muscle weakness Abnormality of the cardiovascular system Disproportionate tall stature Papule Micropenis High forehead Wide nose Overgrowth Hypoplasia of penis Tall stature Pointed chin Large for gestational age Prominent superficial veins Narrow nasal ridge Shawl scrotum Dyskinesia Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Ataxia Sensorineural hearing impairment Hepatomegaly Hyporeflexia Ovarian neoplasm Hypothyroidism Thin upper lip vermilion Progressive cerebellar ataxia Necrotizing myopathy Exotropia Hepatic fibrosis Progressive microcephaly Sensorimotor neuropathy Steatorrhea Chromosome breakage Chorea Abnormal glycosylation Conductive hearing impairment Failure to thrive in infancy Neoplasm Anemia CNS hypomyelination Epileptic encephalopathy Microphthalmia Clinodactyly Upslanted palpebral fissure Coarse facial features Carcinoma Breast carcinoma Sparse hair Blepharophimosis Prominent nasal bridge Hypopigmentation of the skin Dental malocclusion Long eyelashes Low anterior hairline Bone marrow hypocellularity Narrow palate Increased laxity of ankles


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