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Schneckenbecken dysplasia(SHNKND)

MedGen UID:
98475
Concept ID:
C0432194
Disease or Syndrome
Synonym: Chondrodysplasia lethal neonatal with snail like pelvis
SNOMED CT: Schneckenbecken dysplasia (254049009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC35D1 (1p31.3)
 
Monarch Initiative: MONDO:0010013
OMIM®: 269250
Orphanet: ORPHA3144

Definition

Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007). [from OMIM]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Limb undergrowth
MedGen UID:
116086
Concept ID:
C0239399
Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
Advanced ossification of carpal bones
MedGen UID:
341422
Concept ID:
C1849292
Finding
Ossification of carpal bones at an abnormally early age.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Protuberant abdomen
MedGen UID:
340750
Concept ID:
C1854928
Finding
A thrusting or bulging out of the abdomen.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Lateral clavicle hook
MedGen UID:
98426
Concept ID:
C0426805
Finding
An excessive upward convexity of the lateral clavicle.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Narrow vertebral interpedicular distance
MedGen UID:
318662
Concept ID:
C1832598
Finding
A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
Thoracic hypoplasia
MedGen UID:
373339
Concept ID:
C1837482
Congenital Abnormality
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Anterior rib cupping
MedGen UID:
337520
Concept ID:
C1846154
Finding
Wide, concave anterior rib end.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Snail-like ilia
MedGen UID:
338648
Concept ID:
C1849290
Congenital Abnormality
The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.
Advanced tarsal ossification
MedGen UID:
376557
Concept ID:
C1849293
Finding
Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Dumbbell-shaped long bone
MedGen UID:
412739
Concept ID:
C2749582
Finding
An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSchneckenbecken dysplasia
Follow this link to review classifications for Schneckenbecken dysplasia in Orphanet.

Recent clinical studies

Etiology

Cylwik B, Lipartowska K, Chrostek L, Gruszewska E
Acta Biochim Pol 2013;60(3):361-8. Epub 2013 Sep 19 PMID: 24051442
Hall CM, Elçioglu NH
Pediatr Radiol 2004 Jan;34(1):66-74. Epub 2003 Oct 18 doi: 10.1007/s00247-003-1063-x. PMID: 14566438

Diagnosis

Cylwik B, Lipartowska K, Chrostek L, Gruszewska E
Acta Biochim Pol 2013;60(3):361-8. Epub 2013 Sep 19 PMID: 24051442
Varkey JJ, Jones RA
Ultrasound Obstet Gynecol 2004 Oct;24(5):575-7. doi: 10.1002/uog.1115. PMID: 15386610
Hall CM, Elçioglu NH
Pediatr Radiol 2004 Jan;34(1):66-74. Epub 2003 Oct 18 doi: 10.1007/s00247-003-1063-x. PMID: 14566438
Giedion A, Biedermann K, Briner J, Soler R, Spycher M
Skeletal Radiol 1991;20(7):534-8. doi: 10.1007/BF00194254. PMID: 1754916

Prognosis

Nikkels PG, Stigter RH, Knol IE, van der Harten HJ
Pediatr Radiol 2001 Jan;31(1):27-30. doi: 10.1007/s002470000357. PMID: 11200994

Clinical prediction guides

Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, Ebert B, Ellard S
Hum Mol Genet 2019 Nov 1;28(21):3543-3551. doi: 10.1093/hmg/ddz200. PMID: 31423530Free PMC Article
Nikkels PG, Stigter RH, Knol IE, van der Harten HJ
Pediatr Radiol 2001 Jan;31(1):27-30. doi: 10.1007/s002470000357. PMID: 11200994

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