Intrauterine growth retardation, and Delayed skeletal maturation

Diseases related with Intrauterine growth retardation and Delayed skeletal maturation

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Delayed skeletal maturation that can help you solving undiagnosed cases.


Top matches:

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE


Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Medium match TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Medium match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

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Other less relevant matches:

Medium match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Medium match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Medium match AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME


An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Medium match MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

Medium match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Medium match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Medium match MEIER-GORLIN SYNDROME 2; MGORS2


Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Delayed skeletal maturation

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Intrauterine growth retardation and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Micrognathia Postnatal growth retardation Feeding difficulties Small for gestational age Birth length less than 3rd percentile Seizures Patellar aplasia Slender long bone Scoliosis Microtia Clinodactyly

Rare Symptoms - Less than 30% cases


Short foot Abnormal facial shape High pitched voice Narrow mouth Breast hypoplasia Generalized hypotonia Anemia Labial hypoplasia Hypoplastic labia majora Muscular hypotonia Cryptorchidism Intellectual disability, mild Sparse scalp hair Emphysema Small hand Clinodactyly of the 5th finger Obesity Hip dysplasia Convex nasal ridge Stenosis of the medullary cavity of the long bones Delayed closure of the anterior fontanelle Proportionate short stature Lateral clavicle hook Hypoparathyroidism Severe postnatal growth retardation Hypomagnesemia Decreased skull ossification Genu recurvatum Tetany Thoracic scoliosis Long clavicles Generalized tonic seizures Calvarial osteosclerosis Hypocalcemic seizures Hypocalcemic tetany Thin clavicles Cortical thickening of long bone diaphyses Thick lower lip vermilion Hypoplasia of the maxilla Congenital hypoparathyroidism Patent ductus arteriosus Visual impairment Low-set ears Thin long bone diaphyses Hearing impairment Macroglossia Depressed nasal bridge Gastroesophageal reflux Cachexia Cone-shaped epiphysis Prematurely aged appearance Mild global developmental delay Abnormality of earlobe Absent earlobe Talipes equinovarus Camptodactyly Sandal gap Abnormality of the pinna Dolichocephaly Smooth philtrum Joint hypermobility Underdeveloped nasal alae Clitoral hypertrophy Tracheomalacia Aplasia/Hypoplasia of the patella Reduced number of teeth Abnormality of dental enamel Anteverted nares Hypertrichosis Abnormality of cardiovascular system morphology Coarse facial features Wide mouth Thick eyebrow Hirsutism Wide nose Dandy-Walker malformation Long eyelashes Narrow face Abnormal corpus callosum morphology Thick nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Cognitive impairment Downslanted palpebral fissures Glaucoma Craniosynostosis Joint hyperflexibility Thin ribs Hypoplasia of the radius Delayed cranial suture closure Slow-growing hair Esotropia Bilateral sensorineural hearing impairment Broad-based gait Coxa valga Brittle hair Coronal craniosynostosis Long-tract signs Ichthyosis Mild intrauterine growth retardation Tiger tail banding Hypogonadism Deeply set eye Neonatal hypotonia Thin vermilion border Bulbous nose Microcornea Dry skin Specific learning disability Primary amenorrhea Intellectual disability, severe Severe short stature Hypothyroidism Severe global developmental delay Prominent nose Amenorrhea Hypotelorism Hypoplasia of the uterus Intellectual disability, moderate Central hypothyroidism Madelung deformity Abnormality of the carpal bones Lumbar scoliosis Nystagmus Motor delay Pes cavus Decreased testicular size Gynecomastia Recurrent bacterial infections Mesomelia Stomatitis Brachydactyly Upslanted palpebral fissure Short metacarpal Abnormality of the ribs Finger clinodactyly Radioulnar synostosis Cortical gyral simplification Recurrent viral infections Dislocated radial head Hypertelorism Macrocephaly Carious teeth Short palm Full cheeks Hypocalcemia Lymphoproliferative disorder Chromosome breakage Hypergonadotropic hypogonadism Neoplasm Premature ovarian insufficiency Truncal obesity Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Hepatomegaly Adrenal insufficiency Splenomegaly Immunodeficiency Recurrent infections Recurrent respiratory infections Respiratory failure Hypoglycemia Lymphadenopathy Bronchomalacia



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