Growth delay, and Arachnodactyly

Diseases related with Growth delay and Arachnodactyly

In the following list you will find some of the most common rare diseases related to Growth delay and Arachnodactyly that can help you solving undiagnosed cases.

Top matches:

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Other less relevant matches:

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

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

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Arachnodactyly

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

Other less frequent symptoms

Patients with Growth delay and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Seizures Abnormal facial shape Hypertelorism Feeding difficulties Delayed speech and language development Spasticity Dysmetria Camptodactyly Cerebellar hypoplasia Micrognathia Ataxia Neonatal hypotonia High palate Flexion contracture

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Small for gestational age Joint contracture of the hand Areflexia Proteinuria Osteopenia Visual impairment Cerebral atrophy Stage 5 chronic kidney disease Polymicrogyria Glomerulosclerosis Focal segmental glomerulosclerosis Abnormality of the skeletal system Long nose Failure to thrive Intrauterine growth retardation Broad-based gait Nephrotic syndrome Cerebellar atrophy Motor delay Abnormality of metabolism/homeostasis Cataract Pes planus Cognitive impairment Dysarthria Cleft palate Wide nasal bridge Atrial septal defect Nystagmus Narrow vertebral interpedicular distance Abdominal aortic aneurysm Thoracic aortic aneurysm Selective tooth agenesis Oligodontia Large forehead Intervertebral space narrowing Herniation of intervertebral nuclei Amelogenesis imperfecta Agenesis of permanent teeth Aortic aneurysm Reduced number of teeth Poor speech Widely spaced teeth Mandibular prognathia Delayed ability to walk Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation Myopia Abnormality of the dentition Dilatation Skeletal dysplasia Short nose Platyspondyly Thick eyebrow Short palm Delayed eruption of teeth Hypoplasia of the maxilla Microdontia Mitral valve prolapse Hypertrichosis Hypoplasia of dental enamel Ventricular septal defect Constipation Pectus excavatum Short philtrum Short neck Behavioral abnormality Microphthalmia Low-set, posteriorly rotated ears Autistic behavior Coloboma Camptodactyly of finger Severe global developmental delay Minimal change glomerulonephritis Toe syndactyly Interphalangeal joint contracture of finger Long fingers Central apnea Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Downslanted palpebral fissures Narrow forehead Abnormal heart morphology Thin skin Deeply set eye Joint laxity Abnormal cardiac septum morphology Broad forehead Carious teeth Anal atresia Intestinal malrotation Coarctation of aorta Abnormality of the genital system Esotropia Dental crowding Pointed chin Finger clinodactyly Short chin Cutis marmorata Narrow nose Soft skin Narrow maxilla Narrow nasal bridge Sandal gap Myopathic facies Scaphocephaly High, narrow palate Single transverse palmar crease Decreased fetal movement Gait disturbance Respiratory insufficiency due to muscle weakness Poor suck Akinesia Fetal akinesia sequence Intellectual disability, severe Overlapping fingers Oval face Hearing impairment Tremor Skeletal muscle atrophy Delayed puberty Ambiguous genitalia Dolichocephaly Polyhydramnios Reduced bone mineral density Abnormality of vision Abnormality of the eye Progressive cerebellar ataxia Intention tremor Intellectual disability, moderate Pachygyria Truncal ataxia Cerebral palsy Dysdiadochokinesis Myopathy Hypoplasia of the brainstem Toe walking Cortical gyral simplification Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Gait ataxia Babinski sign Absent speech Primary amenorrhea Premature ovarian insufficiency Sensory axonal neuropathy Arthrogryposis multiplex congenita Peripheral neuropathy Malar flattening Talipes equinovarus Respiratory insufficiency Difficulty walking Thin upper lip vermilion Distal muscle weakness Abnormality of the foot Narrow mouth Unsteady gait Peripheral axonal neuropathy Inability to walk Sensory neuropathy Hip dysplasia Abnormality of movement Poor head control Impaired vibratory sensation Muscle weakness Diffuse mesangial sclerosis Pulmonary fibrosis Aplasia/Hypoplasia of the breasts Decreased fertility Secondary amenorrhea Gonadal dysgenesis Increased circulating gonadotropin level Sparse pubic hair Decreased serum estradiol Streak ovary Aplasia/hypoplasia of the uterus Bulbous nose Osteoporosis of vertebrae Abnormality of secondary sexual hair Hyperreflexia Macrotia Muscular hypotonia Strabismus Tapered finger Cupped ear Bullet-shaped distal phalanx of the hallux


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