Abnormality of the skeletal system, and Spina bifida

Diseases related with Abnormality of the skeletal system and Spina bifida

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Spina bifida that can help you solving undiagnosed cases.


Top matches:

Low match NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS


Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (OMIM ) (Detrait et al., 2005).Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.

NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS Is also known as ntd, folate-sensitive

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology
  • Spina bifida
  • Anencephaly
  • Myelomeningocele


SOURCES: OMIM MENDELIAN

More info about NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS

Low match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match CRANIORACHISCHISIS


Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.

Related symptoms:

  • Anal atresia
  • Congenital diaphragmatic hernia
  • Omphalocele
  • Spina bifida
  • Anencephaly


SOURCES: ORPHANET MENDELIAN

More info about CRANIORACHISCHISIS

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Other less relevant matches:

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low match JOUBERT SYNDROME 17; JBTS17


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Low match X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS


X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome|hcg|congenital generalized hypertrichosis, macias-flores type|cgh|macias flores-garcia cruz-rivera syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Abnormality of the dentition
  • Skeletal dysplasia
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS

Low match CAUDAL DUPLICATION


Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.

CAUDAL DUPLICATION Is also known as split notochord syndrome|dipygus

Related symptoms:

  • Cryptorchidism
  • Omphalocele
  • Abnormality of the genital system
  • Spina bifida
  • Renal hypoplasia/aplasia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CAUDAL DUPLICATION

Low match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Low match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Low match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Spina bifida

Symptoms // Phenotype % cases
Myelomeningocele Uncommon - Between 30% and 50% cases
Anencephaly Uncommon - Between 30% and 50% cases
Neural tube defect Uncommon - Between 30% and 50% cases
Spina bifida occulta Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Omphalocele

Rare Symptoms - Less than 30% cases


Encephalocele Intellectual disability Hypertelorism Postaxial polydactyly Global developmental delay Congenital diaphragmatic hernia Postaxial hand polydactyly Polydactyly Scoliosis Calvarial skull defect Seizures Spinal dysraphism Long philtrum Hypothyroidism Intellectual disability, mild Wide nasal bridge Epicanthus Severe short stature Abnormality of metabolism/homeostasis High palate Coarse facial features Bifid sacrum Intestinal duplication Spinal cord lesion Abnormality of the penis Urogenital fistula Uterus didelphys Abnormal sacrum morphology Ureteral duplication Vertebral segmentation defect Renal hypoplasia/aplasia Abnormality of the genital system Short stature Adrenal insufficiency Intellectual disability, moderate Meningocele Abnormal lung lobation Primary adrenal insufficiency Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Holoprosencephaly Hernia Abnormality of cardiovascular system morphology Hydrocephalus Talipes equinovarus Meningoencephalocele Bile duct proliferation Occipital encephalocele Synophrys Bowing of the long bones Dandy-Walker malformation Renal cyst Microphthalmia Intrauterine growth retardation Growth delay Panhypopituitarism Hypopituitarism Congenital, generalized hypertrichosis Aspiration Growth hormone deficiency Delayed puberty Cryptorchidism Intermittent hyperventilation Generalized hypertrichosis Abnormality of the hair Craniorachischisis Sirenomelia Anal atresia Comedo Epidermal nevus Nevus flammeus Pustule Hamartoma Acne Preaxial polydactyly Abnormal vertebral morphology Cervical spina bifida Epidermal acanthosis Nevus Ichthyosis Abnormality of the foot Toe syndactyly Papule Finger syndactyly Scarring Alopecia Cataract Microcephaly Bifid sternum Macrocephaly Gingival fibromatosis Oculomotor apraxia Agenesis of permanent teeth Hypertrichosis Overgrowth Hirsutism Skeletal dysplasia Abnormality of the dentition Hearing impairment Abnormal heart morphology Hyperventilation Molar tooth sign on MRI Cerebellar vermis hypoplasia Headache Apraxia Abnormality of eye movement Abnormality of the eye Syndactyly Cognitive impairment Ataxia Symmetrical, oval parietal bone defects Parietal foramina Aplasia cutis congenita of scalp Cleft upper lip Confusion Abnormality of the diaphragm



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